Insulin receptor substrate gene polymorphisms are associated with metabolic syndrome but not with its components

Fulden Sarac, Afig Berdeli, Sefa Sarac, Sumru Savas, Merve Atan, Fehmi Akcicek

Department of Cardiology, Atatürk Training and Research Hospital, Izmir, Turkey.
Department of Geriatrics Medicine, Medical Faculty, Ege University, Izmir, Turkey.
Department of Moleculer Medicine Laboratory, Medical Faculty, Ege University, Izmir, Turkey.

DOI: 10.4236/jdm.2013.34033                

Abstract

Aim: Metabolic syndrome (MetS) is a major risk factor for both diabetes mellitus and cardiovascular disease (CVD). The aims of the study were 1) to investigate the insulin receptor substrate-1 (IRS-1) and insulin receptor substrate-2 (IRS-2) gene polymorphisms in patients with MetS and 2) to examine the relationships between gene polymorphisms and components of MetS. Patients & Methods: The study population included 100 patients with MetS and 30 patients without MetS as control group. Metabolic syndrome (MS) was defined as in ATP III. Entire coding exons of IRS-1 and IRS-2 genes were amplified by polymerase chain reaction (PCR). Insulin resistance (IR) was estimated using the homeostasis model assessment (HOMA). Results: In patients with MetS, 34 (34%), had G972R (rs1801278) gene polymorphism and 66 (66%) had no nucleotide substitutions at the IRS-1 gene (p < 0.0001). As for the IRS-2 gene, 18.0% of the patients were heterozygous and 11.0% were homozygous for the G1057D mutation, 2.0% were heterozygous for the P1031P and P1033PG1057 mutations, 17.0% were heterozygous for P1033P, 3.0% were homozygous for P1033P and 5% were heterozygous for the G 1067D and P1033P mutations in patients with MetS (p = 0.0001). However, none of the control subjects had nucleotide substitutions in the IRS-1 and IRS-2 genes. There were no correlations between IRS-1/IRS-2 gene polymorphisms and metabolic syndrome components such as waist circumference, blood pressure, triglyceride, HDL-Cholesterol, LDL-Cholesterol and HOMA-IR levels. Conclusion: Insulin receptor substrate-1 and 2 gene polymorphisms were associated with metabolic syndrome but not its components.

Keywords

Metabolic Syndrome; Insulin Receptor Substrat-1 Gene; Insulin Receptor Substrat-2 Gene

Conflicts of Interest

The authors declare no conflicts of interest.

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