Revista Cubana de Endocrinología
versão ISSN 1561-2953
PEREZ, Luis Miguel et al. The Ala513Pro and Gly972ARg polymorphous variants of IRS-1 gen are not associated with type diabetes mellitus in a group of the Cuban population. Rev Cubana Endocrinol [online]. 2011, vol.22, n.2, pp. 91-102. ISSN 1561-2953.
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.
Palavras-chave : Diabetes mellitus; genetic susceptibility; IRS-1.