Endocrine Abstracts (2010) 22 P282

The Gly972Arg polymorphism in the insulin receptor substrate-1 gene (IRS1) and the impact on type 2 diabetes mellitus

Darko Katalinic1, Nora Nikolac2, Vanja Zjacic-Rotkvic2, Elizabeta Topic2, Miljenko Solter2 & Stjepko Plestina1

1Hospital Center Zagreb, Zagreb, Croatia; 2Sisters of Charity University Hospital, Zagreb, Croatia.

Background: Genetics may play an important role in type 2 diabetes (T2D). In the last 20 years, there has been a surge in the number of genetic studies in attempts to identify some of the underlying risk factors. Mutations in a wide variety of genes contribute to the deregulation of glucose homeostasis, and seem to confer the risk for developing T2D. Insulin receptor substrate-1 (IRS1) is a substrate of the insulin receptor tyrosine kinase and appears to have a control role in the insulin-stimulated signal transduction pathway. Therefore, the IRS1 gene, and particularly his Gly972Arg polymorphism, hase been studied extensively as a candidate gene for type 2 diabetes (T2D), but findings have been inconsisted.

The aim of this study was to investigate the correlation of Gly972Arg gene polymorphism with the development of T2D.

Materials and methods: The group consisted of 214 patients with T2D and 216 healthy control subjects without any findings of glucose metabolism impairment. Genomic DNA was isolated from peripheral venous blood while analysis of Gly972Arg gene mutation was performed with polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). The study was approved by the local Ethical Committee and was in accordance with the principles of the Declaration of Helsinki.

Results: We observed no significant difference in Gly972Arg polymorphism distribution or allele frequencies between the two examined groups (P=0.9341).

Conclusion: The present study show that the IRS1 Gly972Arg variant is not associated with T2D.

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