1. The C825T polymorphism in the G-protein beta3 subunit gene and diabetic complications in IDDM patients.
- Author
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Shcherbak NS and Schwartz EI
- Subjects
- Adolescent, Adult, Alleles, Case-Control Studies, Child, Child, Preschool, Cohort Studies, Diabetic Nephropathies etiology, Diabetic Nephropathies genetics, Diabetic Neuropathies etiology, Diabetic Neuropathies genetics, Diabetic Retinopathy etiology, Diabetic Retinopathy genetics, Female, Genetic Predisposition to Disease genetics, Genotype, Humans, Male, Middle Aged, Russia epidemiology, Diabetes Mellitus, Type 1 complications, Diabetes Mellitus, Type 1 genetics, Heterotrimeric GTP-Binding Proteins genetics, Polymorphism, Single Nucleotide genetics
- Abstract
Complications of insulin-dependent diabetes mellitus (IDDM) are a major cause of morbidity and mortality; however, the mechanisms of their development are still to be elucidated. Genetic susceptibility contributes to the pathogenesis of nephropathy in IDDM. Enhanced G-protein activation, a cellular phenotype observed in cultured cells from patients with essential hypertension, was recently documented in IDDM subjects with nephropathy. A C825T polymorphism was recently described in GNB3, the gene encoding the beta 3 subunit of heterotrimeric G-proteins. This genetic variant has been associated with enhanced G-protein activation. The 825T allele was observed more frequently in a group with essential hypertension. We analyzed the role of the C825T polymorphism in the predisposition to diabetic complications in IDDM. In this study, we investigated the frequency of this polymorphism in a large case-control study and found no association of the 825T allele with diabetic nephropathy, retinopathy, and neuropathy.
- Published
- 2001
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