DETERMINACIÓN DE LA FRECUENCIA ALÉLICA DE LA VARIANTE POLIMÓRFICA rs1800961 EN EL GEN HNF4AEN PACIENTES CON DIABETES MELLITUS TIPO 2

Abstract

Diabetes mellitus type 2 (DM2) is a multifactorial disease characterized by increased levels of glucose in blood and decrease or resistance to insulin action. One of the factors that determine the onset of diabetes is the presence of a single nucleotide polymorphisms in genes, such as the Hepatocyte Nuclear Factor 4 Alpha (HNF4A), whose variant rs18000961 (417 C> T in exon 4), produces a missense mutation Thr139Iso, located in the hinge region of DNA-binding domain; which has been previously reported in Mexican population high association with the risk of developing DM2. In this study we determined the frequency of polymorphism in a group of Mexican subjects with type 2 diabetes patients (cases) from the Unit of Medical Specialties and the Hospital Central Militar (from La Secretaria de la Defensa Nacional) and a group of non-diabetic population (control) in order to evaluate the association between the polymorphism and development of the disease in these populations. An analysis using statistical evidence regarding the variables age, sex, glucose, body mass index (BMI) and the presence or absence of risk alleles of the polymorphism in both groups. Our statistical results give significant differences in clinical variables (age, BMI, and glucose) between both groups, older age was observed in diabetic relative to non-diabetic subjects, and elevated glucose levels above 130 mg / dl in patients with DM2 even when patients on drug therapy, which speaks of poor glucose control in individuals of this group. According to the Odds Ratio estimate (OR = 2.05 with 95% CI (0.50-8.41) and p =0.3090), no association was founded between the frequency of risk allele of the rs1800961 variant and the development of diabetes, nor had any association between the risk allele of the variant rs1800961 and levels of glucose, BMI, age or sex in either studied groups .Our statistical results do not support the possibility that the HNF4A rs1800961 variant contributes to susceptibility to develop type 2 diabetes in the populations studied; but we suggest more studies increasing the number of cases and controls in order to increase the statistical power of these resolutions.