CIDeRplusGeneral Information:
| Id: | 4,940 (click here to show other Interactions for entry) |
| Diseases: |
Diabetes mellitus, type II
- [OMIM]
Insulin resistance |
| Homo sapiens | |
| article | |
| Reference: | Mittelstrass K et al.(2011) Discovery of sexual dimorphisms in metabolic and genetic biomarkers PLoS Genet. 7 [PMID: 21852955] |
Interaction Information:
| Comment | Eight SNPs on chromosome 2 showed genome-wide significant differences in SNP effects (beta-estimates) between men and women for association with glycine. The absolute beta-estimates of all eight significant SNPs were higher in women compared to men. The strongest gender difference was seen at SNP rs715. For men the observed effect of rs715 was -0.067 and for women -0.2. SNP rs715 is part of the 3' UTR region of the CPS1 gene. SNP rs7422339 is in a non-synonymous coding region of CPS1. All other significant SNPs are intergenetic but located in the same region. The gender-specific effect of SNP rs7422339 was significantly replicated as the difference between the beta-estimates of men and women was of the same direction in the discovery sample and in the replication cohort Rep-KORA F4 and the p-value of the test of differences was lower than the replication significance niveau. The other SNPs of the CPS1 gene region also showed significant gender-specific effects but these effects could not be replicated in the Rep-KORA F3 cohort. As the effect-sizes and differences for the SNP rs7422339 are similar and at least for the other SNPs are pointing into the same direction as in the discovery set, the failed replication in Rep-KORA F3 might be a problem of power due to the smaller sample size. |
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Formal Description Interaction-ID: 49173 |
SNP affects_quantity of drug/chemical compound |
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