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

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 780-806-Determinants of Insulin Resistance & Associated Metabolic Disturbances
Basic/Translational
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-793
Fulden Sarac*1, Afig Berdeli2, Sefa Sarac3, Sumru Savas1, Merve Atan1 and Fehmi Akcicek1
1Ege University Medical Faculty, Izmir, Turkey, 2Ege University Medical Faculty, Izmir, 3Atatürk Training and Research Hospital, Izmir, Turkey
Introduction: 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.

Subjects and Method: The study population included 100 patients with MetS and 30 patients without MetS as control group. 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 components such as waist circumference, blood pressure, triglyceride, HDL-Cholesterol, LDL-Cholesterol and HOMA-IR levels in patients with MetS. 

Conclusion: Insulin receptor substrate-1 and 2 gene polymorphisms were associated with metabolic syndrome but not its components.

Nothing to Disclose: FS, AB, SS, SS, MA, FA

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm