RESUMEN
SUMMARY 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.
Asunto(s)
Humanos , Masculino , Femenino , Anciano , Predisposición Genética a la Enfermedad/genética , Diabetes Mellitus Tipo 2/genética , Factor Nuclear 1-beta del Hepatocito/genética , Brasil , Polimorfismo de Nucleótido Simple , Diabetes Mellitus Tipo 2/metabolismo , Alelos , Factor Nuclear 1-beta del Hepatocito/metabolismo , Frecuencia de los Genes , GenotipoRESUMEN
OBJECTIVES: The number of deaths from vascular diseases is incredibly high worldwide, and reliable markers for major events are still needed. The current cross-sectional study investigated the association of Klotho haplotypes and Klotho serum levels with classic risk factors and a clinical history of vascular events. METHODS: Clinical, anthropometric, biochemical and nutritional assessments were conducted with 168 older adults, complemented by genotyping (rs9536314 and rs9527025) and the detection of serum Klotho (ELISA). RESULTS: Klotho levels and haplotypes did not associate with most classic risk factors for vascular events, including markers such as C-reactive protein and homocysteine. A positive association was only found between Klotho levels and the previous occurrence of a myocardial infarction by both correlational (p=0.006) and variance analyses (p<0.001), and these associations were independent of the context. CONCLUSION: Our results suggest that serum Klotho is higher in individuals with a clinical history of myocardial infarction but not with a history of coronary artery disease or stroke. None of the Klotho haplotypes were associated with the variables investigated herein.