The rs4430796 SNP of the HNF1β gene associates with type 2 diabetes in older adults

Abstract

Introduction: The impact of type 2 diabetes mellitus raises interest in understanding its evolutionary-genetic basis, to unveil yet unknown pathways that may have immediate medical relevance. The HNF1β gene (hepatocyte nuclear factor-1 beta) is a transcription factor expressed in tissues such as liver, kidney, genital tract and pancreas that is known to be essential for insulin secretion and glucose balance. We tested the association of allelic variants produced by the HNF1β gene (rs4430796) variation with the clinical and biochemical profile of elderly Brazilian outpatients with metabolic disorders. Material and Methods: Anthropometry, blood pressure, glycaemia, lipemia and other parameters were assessed in 184 Brazilians aged 60 or older in clinical care settings. Alleles were determined by amplification of the polymorphic site by real time polymerase chain reaction. Results: Analysing variables across the genotypes, a statistically significant difference was noticed in the allele frequencies among diabetic patients, with 30.8% of the A homozygous bearing the condition compared to a prevalence of 12.2% between G homozygotes. Conclusion: Our results corroborate the possible protective property of the GG genotype from the rs4430796 variation (already presented in the literature) against occurrence of diabetes mellitus, which appears applicable to elderly individuals as well, even in the context of multiple metabolic disorders so typical in older Brazilians.