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2011, Number 2

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Rev Cuba Endoc 2011; 22 (2)

The Ala513Pro and Gly972ARg polymorphous variants of IRS-1 gen are not associated with type diabetes mellitus in a group of the Cuban population

Miguel PL, Álvarez A, Domínguez E, Juí JA, Rodríguez J, Pereira Y, Hernández J, Manuel GR, Julia DE, Valenti C, Ayras M, Gehrisch S, Jaross W

Language: Spanish
References: 37
Page: 91-102
PDF size: 80.31 Kb.


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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