CIDeRplusGeneral Information:
| Id: | 5,490 (click here to show other Interactions for entry) |
| Diseases: |
Diabetes mellitus, ketosis-prone
- [OMIM]
Diabetes mellitus, type II - [OMIM] Insulin resistance |
| Homo sapiens | |
| West Africans | |
| article | |
| Reference: | Mauvais-Jarvis F et al.(2004) PAX4 gene variations predispose to ketosis-prone diabetes Hum. Mol. Genet. 13: 3151-3159 [PMID: 15509590] |
Interaction Information:
| Comment | Ketosis-prone diabetes (KPD) is a rare form of type 2 diabetes, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by fulminant and phasic insulin dependence, but lacking markers of autoimmunity observed in type 1 diabetes. PAX4 is a transcription factor essential for the development of insulin-producing pancreatic beta-cells. A missense mutation (Arg121Trp) of PAX4 has been implicated in early and insulin deficient type 2 diabetes in Japanese subjects. The phenotype similarities between KPD and Japanese carriers of Arg121Trp have prompted the authors to investigate the role of PAX4 in KPD. 101 KPD subjects were screened and a new variant in the PAX4 gene (Arg133Trp) was found, specific to the population of west African ancestry, and which predisposes to KPD under a recessive model. Homozygous Arg133Trp PAX4 carriers were found in 4% of subjects with KPD but not in 355 controls or 147 subjects with common type 2 or type 1 diabetes. |
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Formal Description Interaction-ID: 131877 |
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