General Information:

Id: 4,033
Diseases: Diabetes mellitus, type II - [OMIM]
Insulin resistance
Parkinson disease
Homo sapiens
article
Reference: Gieger C et al.(2008) Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum PLoS Genet. 4 [PMID: 19043545]

Interaction Information:

Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41558

decreases_activity of

gene/protein

FADS1

the effective allele is the minor allele
Drugbank entries Show/Hide entries for FADS1
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41559

decreases_quantity of

drug/chemical compound

PC aa C36:4

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41560

decreases_quantity of

drug/chemical compound

PC a C20:4

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41561

decreases_quantity of

drug/chemical compound

PC aa C38:4

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41562

decreases_quantity of

drug/chemical compound

PC ae C36:5

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41563

decreases_quantity of

drug/chemical compound

SM C22:2

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41564

decreases_quantity of

drug/chemical compound

PC ae C38:4

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41565

decreases_quantity of

drug/chemical compound

PC ae C38:5

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41566

decreases_quantity of

drug/chemical compound

PC aa C38:5

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41567

decreases_quantity of

drug/chemical compound

PC ae C36:4

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41568

decreases_quantity of

drug/chemical compound

PE a C10:0

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41569

decreases_quantity of

drug/chemical compound

SM (COOH) C18:3

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41570

decreases_quantity of

drug/chemical compound

PC aa C34:4

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41571

decreases_quantity of

drug/chemical compound

PC aa C36:5

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41572

decreases_quantity of

drug/chemical compound

PC aa C40:5

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41573

decreases_quantity of

drug/chemical compound

Arachidonic acid

in blood serum; the effective allele is the minor allele
Drugbank entries Show/Hide entries for
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41574

decreases_quantity of

drug/chemical compound

PC ae C40:5

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41575

decreases_quantity of

drug/chemical compound

PC aa C40:4

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41576

decreases_quantity of

drug/chemical compound

SM (OH) C26:1

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41577

decreases_quantity of

drug/chemical compound

SM C24:2

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41578

decreases_quantity of

drug/chemical compound

PI aa C38:4

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41579

decreases_quantity of

drug/chemical compound

SM (OH) C24:0

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41580

decreases_quantity of

drug/chemical compound

PA aa C20:7

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41581

decreases_quantity of

drug/chemical compound

PC ae C38:6

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41583

decreases_quantity of

drug/chemical compound

PC aa C38:6

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41584

decreases_quantity of

drug/chemical compound

Glytarylcarnitine

in blood serum; the effective allele is the minor allele
Comment SNP rs174548, one of several SNPs that lie in a linkage disequilibrium block containing the FADS1 gene was strongly associated with a number of glycerophospholipid concentrations. The FADS1 gene codes for the fatty acid delta-5 desaturase, a key enzyme in the metabolism of long-chain polyunsaturated omega-3 and omega-6 fatty acids. The minor allele variant of this SNP results in a reduced efficiency of the fatty acid delta-5 desaturase reaction, a fact that can be inferred from the following observations: the concentrations of numerous phosphatidylcholines (PC aa C34:4, PC aa C36:4, PC aa C36:5, PC aa C38:4, PC aa C38:5, PC aa C38:6, PC aa C40:4, PC aa C40:5), plasmalogen/plasmenogen phosphatidylcholines (PC ae C36:4, PC ae C38:4, PC ae C38:5, PC ae C38:6, PC ae C40:5), and the phosphatidylinositol PI aa C38:4 with four and more double bonds in their polyunsaturated fatty acid (PUFA) side chains are lowest in individuals that carry the minor allele of rs174548. In particular, the concentrations of the direct product of FADS1, arachidonic acid as well as those of its lyso-phosphatidylcholine derivative (PC a C20:4) are found to be significantly reduced with increasing copy number of the minor allele.
Formal Description
Interaction-ID: 41585

decreases_quantity of

drug/chemical compound

SM C28:4

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41586

increases_quantity of

drug/chemical compound

PE aa C34:2

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41588

increases_quantity of

drug/chemical compound

PE e (COOH) C16:3

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41589

increases_quantity of

drug/chemical compound

PC aa C34:2

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41590

increases_quantity of

drug/chemical compound

PC ae C36:2

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41591

increases_quantity of

drug/chemical compound

PI aa C36:2

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41592

increases_quantity of

drug/chemical compound

PC aa (OH, COOH) C30:4

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41593

increases_quantity of

drug/chemical compound

PC ae C34:2

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41594

increases_quantity of

drug/chemical compound

Lysine

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41595

increases_quantity of

drug/chemical compound

PE aa C36:2

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41596

increases_quantity of

drug/chemical compound

PC aa (COOH) C30:3

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41597

increases_quantity of

drug/chemical compound

SM (OH,COOH) C6:0

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41598

increases_quantity of

drug/chemical compound

PI a (OH, COOH) C18:2

in blood serum; the effective allele is the minor allele
Comment Concentrations of glycerophospholipids with three and less double bonds in their PUFA side chains show a positive association with the FADS1 genotype. These metabolites include the phosphatidylcholines PC aa C34:2 and PC aa C36:2, the plasmalogen/plasmenogen phosphatidylcholines PC ae C34:2 and PC ae C36:2, the phosphatidylethanolamines PE aa C34:2 and PE aa C36:2, and the phosphatidylinositol PI aa C36:2.
Formal Description
Interaction-ID: 41599

increases_quantity of

drug/chemical compound

PC aa C36:2

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41611

increases_quantity of

drug/chemical compound

PE aa C38:6

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41614

increases_quantity of

drug/chemical compound

PE aa C40:6

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41615

increases_quantity of

drug/chemical compound

PE aa C38:5

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41616

increases_quantity of

drug/chemical compound

PE aa C36:4

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41617

increases_quantity of

drug/chemical compound

PC aa (COOH) C30:4

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41618

increases_quantity of

drug/chemical compound

PE aa C38:4

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41619

increases_quantity of

drug/chemical compound

PE aa C34:2

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41620

increases_quantity of

drug/chemical compound

PC aa (COOH) C30:3

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41621

increases_quantity of

drug/chemical compound

SM C16:0

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41622

increases_quantity of

drug/chemical compound

PC ae C34:6

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41623

increases_quantity of

drug/chemical compound

PE aa C40:5

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41624

decreases_quantity of

drug/chemical compound

Tryptophan

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41625

increases_quantity of

drug/chemical compound

SM C16:1

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41626

increases_quantity of

drug/chemical compound

SM C28:3

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41627

increases_quantity of

drug/chemical compound

PC aa C38:6

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41628

increases_quantity of

drug/chemical compound

SM (COOH) C16:2

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41629

increases_quantity of

drug/chemical compound

SM C14:0

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41630

decreases_quantity of

drug/chemical compound

Leucine/Isoleucine

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41631

increases_quantity of

drug/chemical compound

SM (OH, COOH) C14:1

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41632

increases_quantity of

drug/chemical compound

PC ae C40:5

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41633

increases_quantity of

drug/chemical compound

PI a (OH) C12:3

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41635

increases_quantity of

drug/chemical compound

PE aa C36:2

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41636

decreases_quantity of

drug/chemical compound

Valine

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41637

increases_quantity of

drug/chemical compound

PC aa (COOH) C30:2

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41638

increases_quantity of

drug/chemical compound

PC ae C38:6

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41639

increases_quantity of

drug/chemical compound

PC ae (OH, COOH) C30:3

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41640

increases_quantity of

drug/chemical compound

PC aa C40:6

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41641

increases_quantity of

drug/chemical compound

PI aa C38:3

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41642

increases_quantity of

drug/chemical compound

PE a (OH, COOH) C12:2

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41643

increases_quantity of

drug/chemical compound

PE e (OH) C18:1

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41644

increases_quantity of

drug/chemical compound

PC aa (COOH) C26:2

in blood serum; the effective allele is the minor allele
Comment SNP rs4775041 is located in a linkage disequilibrium block containing the gene coding for LIPC, a key enzyme of the long-chain fatty acid metabolism. This polymorphism associates with the concentrations of numerous glycerophosphatidylcholines, glycerophosphatidylethanolamines and sphingomyelins. Homozygotes carrying the minor allele have on average 70% higher concentrations of the phosphatidylethanolamine diacyl C38:6 (PE aa C38:6) than homozygotes for the major allele. The molecular function of LIPC is to break-down triglycerides to diacyl- and monoacylglycerols and fatty acids, which makes this association functionally plausible. In previous GWA studies this locus was reported to be associated with HDL cholesterol and triglyceride levels.
Formal Description
Interaction-ID: 41645

decreases_quantity of

drug/chemical compound

Glutamate

in blood serum; the effective allele is the minor allele
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41650

affects_activity of

phenotype

abnormal circulating Arg/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41652

affects_activity of

phenotype

abnormal circulating Met/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41653

affects_activity of

phenotype

abnormal circulating Lys/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41655

affects_activity of

phenotype

abnormal circulating Gly/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41656

affects_activity of

phenotype

abnormal circulating Orn/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41657

affects_activity of

phenotype

abnormal circulating His/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41658

affects_activity of

phenotype

abnormal circulating Trp/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41659

affects_activity of

phenotype

abnormal circulating Thr/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41660

affects_activity of

phenotype

abnormal circulating Phe/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41661

affects_activity of

phenotype

abnormal circulating Met.sulf/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41662

affects_activity of

phenotype

abnormal circulating Tyr/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41663

affects_activity of

phenotype

abnormal circulating Ala/Glu ratio

in blood serum
Comment A polymorphism in the PARK2 gene (rs992037) alters the concentrations of several amino acids. Some of these amino acids are directly connected to the urea cycle. PARK2 codes for parkin, a ubiquitin ligase for which a loss-of-function mutation has been reported to result in Parkinson's disease. When using ratios between metabolite concentrations we observed up to three orders of magnitude smaller p-values. This suggests that this polymorphism impacts some metabolic pathway that involves glutamate on the one hand and a number of other amino acids (except lysine) on the other hand. Thus, the metabolic footprint of this association is that of an amino acid interconversion, which is supported by the functional role of PARK2 as a ubiquitin ligase in the protein degradation pathway.
Formal Description
Interaction-ID: 41664

affects_activity of

phenotype

abnormal circulating Cit/Glu ratio

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41665

increases_quantity of

drug/chemical compound

SM C14:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41736

increases_quantity of

drug/chemical compound

SM C16:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41737

increases_quantity of

drug/chemical compound

PC ae C42:3

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41738

increases_quantity of

drug/chemical compound

SM C22:1

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41739

increases_quantity of

drug/chemical compound

SM (COOH) C12:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41740

increases_quantity of

drug/chemical compound

SM C18:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41741

increases_quantity of

drug/chemical compound

SM C26:4

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41742

increases_quantity of

drug/chemical compound

PC aa (COOH) C26:2

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41743

decreases_quantity of

drug/chemical compound

SM C24:4

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41744

increases_quantity of

drug/chemical compound

SM C24:3

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41745

increases_quantity of

drug/chemical compound

PC aa C28:1

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41746

increases_quantity of

drug/chemical compound

PC aa (OH, COOH) C28:4

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41747

decreases_quantity of

drug/chemical compound

PI aa (OH, COOH) C28:2

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41748

increases_quantity of

drug/chemical compound

SM (COOH) C18:1

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41749

increases_quantity of

drug/chemical compound

SM C18:1

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41750

increases_quantity of

drug/chemical compound

SM C24:2

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41751

increases_quantity of

drug/chemical compound

PC ae C38:1

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41752

increases_quantity of

drug/chemical compound

PE aa (COOH) C14:1

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41753

increases_quantity of

drug/chemical compound

PE ae (OH, COOH) C14:2

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41754

increases_quantity of

drug/chemical compound

PC ae C40:5

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41755

increases_quantity of

drug/chemical compound

SM C22:3

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41756

decreases_quantity of

drug/chemical compound

SM C20:4

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41757

increases_quantity of

drug/chemical compound

PC ae C40:4

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41758

increases_quantity of

drug/chemical compound

PC ae C38:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41759

increases_quantity of

drug/chemical compound

SM C20:3

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41760

increases_quantity of

drug/chemical compound

SM (OH) C20:1

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41761

increases_quantity of

drug/chemical compound

PC ae C36:2

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41762

increases_quantity of

drug/chemical compound

PC ae C32:7

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41763

increases_quantity of

drug/chemical compound

SM C20:1

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41764

increases_quantity of

drug/chemical compound

PE e C14:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41765

increases_quantity of

drug/chemical compound

PC aa (COOH) C30:3

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41766

increases_quantity of

drug/chemical compound

PC ae (OH, COOH) C30:4

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41767

increases_quantity of

drug/chemical compound

Docosahexaenoic acid

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41768

increases_quantity of

drug/chemical compound

PC aa C36:2

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41769

increases_quantity of

drug/chemical compound

SM C26:3

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41770

increases_quantity of

drug/chemical compound

PC aa (OH, COOH) C30:4

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41771

increases_quantity of

drug/chemical compound

SM (COOH) C16:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41772

increases_quantity of

drug/chemical compound

PC ae C32:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41773

increases_quantity of

drug/chemical compound

PC aa (COOH) C14:2

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41774

increases_quantity of

drug/chemical compound

SM C22:0

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41775

increases_quantity of

drug/chemical compound

PC ae (COOH) C30:3

in blood serum
Comment SNP rs9309413 lies 21 kb upstream of PLEK. The PLEK gene codes for pleckstrin, a protein that has been proposed to facilitate protein-lipid interactions and to affect membrane structure. SNP rs9309413 impacts on a number of sphingomyelins, which are known to play a major role in membrane lipid structure.
Formal Description
Interaction-ID: 41776

increases_quantity of

drug/chemical compound

PC a C18:1

in blood serum
Comment The study identified two new loci: the first polymorphism is located in the gene coding for the short-chain acyl-Coenzyme A dehydrogenase (SCAD; e.g. intronic SNP rs2014355), the second lies in the gene coding for the mediumchain acyl-Coenzyme A dehydrogenase (MCAD; e.g. intronic SNP rs11161510). Both genes code for enzymes that initiate the beta-oxidation of fatty acids, but they differ in the preference for their chain lengths. The metabolite pair that associates most strongly with rs2014355 of SCAD is the ratio between the shortchain acylcarnitines C3 and C4, while the pair that associates most strongly with rs11161510 of MCAD is the ratio between the medium-chain acylcarnitines C12 and C8. Fatty acids are bound to free carnitine for transport and beta-oxidation into the mitochondria. The short-chain acylcarnitines can be considered as indirect substrates and products of SCAD and the medium-chain acylcarnitines as indirect substrates of MCAD, which matches the biochemical function of these enzymes. From the direction of the effect of these polymorphisms (higher concentrations of the longer chain fatty acids (= substrates) when compared to the smaller chain fatty acids (= products) implies a reduced dehydrogenase activity) it can further be deduced that in both cases minor allele homozygotes have the lowest enzymatic turnover for these reactions.
Formal Description
Interaction-ID: 41777

affects_activity of

phenotype

abnormal circulating acylcarnitine C3/C4 ratio

in blood serum
Comment The study identified two new loci: the first polymorphism is located in the gene coding for the short-chain acyl-Coenzyme A dehydrogenase (SCAD; e.g. intronic SNP rs2014355), the second lies in the gene coding for the mediumchain acyl-Coenzyme A dehydrogenase (MCAD; e.g. intronic SNP rs11161510). Both genes code for enzymes that initiate the beta-oxidation of fatty acids, but they differ in the preference for their chain lengths. The metabolite pair that associates most strongly with rs2014355 of SCAD is the ratio between the shortchain acylcarnitines C3 and C4, while the pair that associates most strongly with rs11161510 of MCAD is the ratio between the medium-chain acylcarnitines C12 and C8. Fatty acids are bound to free carnitine for transport and beta-oxidation into the mitochondria. The short-chain acylcarnitines can be considered as indirect substrates and products of SCAD and the medium-chain acylcarnitines as indirect substrates of MCAD, which matches the biochemical function of these enzymes. From the direction of the effect of these polymorphisms (higher concentrations of the longer chain fatty acids (= substrates) when compared to the smaller chain fatty acids (= products) implies a reduced dehydrogenase activity) it can further be deduced that in both cases minor allele homozygotes have the lowest enzymatic turnover for these reactions.
Formal Description
Interaction-ID: 41778

affects_activity of

phenotype

abnormal circulating acylcarnitine C12/C8 ratio

in blood serum
Comment The study identified two new loci: the first polymorphism is located in the gene coding for the short-chain acyl-Coenzyme A dehydrogenase (SCAD; e.g. intronic SNP rs2014355), the second lies in the gene coding for the mediumchain acyl-Coenzyme A dehydrogenase (MCAD; e.g. intronic SNP rs11161510). Both genes code for enzymes that initiate the beta-oxidation of fatty acids, but they differ in the preference for their chain lengths. The metabolite pair that associates most strongly with rs2014355 of SCAD is the ratio between the shortchain acylcarnitines C3 and C4, while the pair that associates most strongly with rs11161510 of MCAD is the ratio between the medium-chain acylcarnitines C12 and C8. Fatty acids are bound to free carnitine for transport and beta-oxidation into the mitochondria. The short-chain acylcarnitines can be considered as indirect substrates and products of SCAD and the medium-chain acylcarnitines as indirect substrates of MCAD, which matches the biochemical function of these enzymes. From the direction of the effect of these polymorphisms (higher concentrations of the longer chain fatty acids (= substrates) when compared to the smaller chain fatty acids (= products) implies a reduced dehydrogenase activity) it can further be deduced that in both cases minor allele homozygotes have the lowest enzymatic turnover for these reactions.
Formal Description
Interaction-ID: 41779

decreases_activity of

gene/protein

ACADS

the effective allele is the minor allele
Drugbank entries Show/Hide entries for ACADS
Comment The study identified two new loci: the first polymorphism is located in the gene coding for the short-chain acyl-Coenzyme A dehydrogenase (SCAD; e.g. intronic SNP rs2014355), the second lies in the gene coding for the mediumchain acyl-Coenzyme A dehydrogenase (MCAD; e.g. intronic SNP rs11161510). Both genes code for enzymes that initiate the beta-oxidation of fatty acids, but they differ in the preference for their chain lengths. The metabolite pair that associates most strongly with rs2014355 of SCAD is the ratio between the shortchain acylcarnitines C3 and C4, while the pair that associates most strongly with rs11161510 of MCAD is the ratio between the medium-chain acylcarnitines C12 and C8. Fatty acids are bound to free carnitine for transport and beta-oxidation into the mitochondria. The short-chain acylcarnitines can be considered as indirect substrates and products of SCAD and the medium-chain acylcarnitines as indirect substrates of MCAD, which matches the biochemical function of these enzymes. From the direction of the effect of these polymorphisms (higher concentrations of the longer chain fatty acids (= substrates) when compared to the smaller chain fatty acids (= products) implies a reduced dehydrogenase activity) it can further be deduced that in both cases minor allele homozygotes have the lowest enzymatic turnover for these reactions.
Formal Description
Interaction-ID: 41780

decreases_activity of

gene/protein

ACADM

the effective allele is the minor allele
Drugbank entries Show/Hide entries for ACADM