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Variantes polimórficas Ala513Pro y Gly972Arg del gen IRS-1 no se asocian a la diabetes mellitus tipo 2 en un grupo de la población cubanaKeywords: diabetes mellitus, genetic susceptibility, irs-1. Abstract: introduction: the type 2 diabetes mellitus is a heterogeneous and multifactor disease determined by genetic and no-genetic factors. the substrate 1 of insulin receptor (irs-1) has a fundamental function in transmission of insulin signal, thus its genic variants are significant targets in study of genetic susceptibility to this disease in different populations. objective: to explore the role of the gly972arg and ala513pro of irs-1 gen polymorphous variants in the genetic susceptibility of type 2 diabetes mellitus in cuban population. methods: the frequency of above mentioned polymorphous variants in 499 cuban citizens with a 22-30 body mass index aged between 40 to 70 including 272 diabetics (54,5 %) and 227 non-diabetic (45,5 %). results: frequency of pro513 allele was low (1,2 %) and similar en both groups (1,1 % versus 1,3 % for diabetic group and the control one, respectively). frequency of gly972arg polymorphism was of 16,2 %, higher than that reported for most of study populations. there were not significant differences in frequency of arg972 allele between the diabetic group and the control one (15,4 % versus 17,3 %). also, there were not changes in glycemia and insulinemia levels associated to presence of polymorphous allele. conclusions: in present group of cuban population the above mentioned polymorphous variants are not involved in etiology of type 2 diabetes mellitus.
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