SIRT1 gene is associated with cardiovascular disease in the Iranian population

• DOI: 10.1016/j.ejmhg.2014.11.005
• Publication Date: 2015-01-20T14:03:13Z
• Authors: N. Mohtavinejad; A. Nakhaee; H. Harati; J. Poodineh; M. Afzali
• Keywords: 0301 basic medicine; Medicine (General); 03 medical and health sciences; R5-920; SIRT1; Genetic polymorphism; Genetics; Cardiovascular disease (CVD); Sirtuin; Genetics(clinical); QH426-470; 3. Good health

Background: Sirtuins (SIRT) have recently been identified as the pivotal regulators oflifespan and health. SIRT1 has protective effects against cardiovascular disease (CVD) and through its deacetylase activity it regulates numerous essential pathways including regulating blood pressure, reducing atherosclerosis, heart protection against oxidative stress and inducing cardiac cell survival and growth.Aims: Therefore, this study was conducted to evaluate whether two genetic polymorphisms of SIRT1 rs3758391 T/C and rs369274325 G/T are associated with the risk of CVD.Material and methods: A total of 500 Iranian subjects including 250 CVD patients and 250 healthy individuals as the control group were recruited in this case–control study. Genotyping of SIRT1 rs3758391 T/C and rs369274325 G/T polymorphisms were performed using PCR-RFLP and Tetra-ARMS PCR methods, respectively.Results: Our findings indicated a significant difference between two groups regarding the SIRT1 rs3758391 CC genotype in both additive and recessive models. The rs3758391 CC genotype was found to be more frequent in CVD patients than in the controls (19% vs. 6%), suggesting a statistically significant difference in either of additive (CC vs. TT; OR= 3.06, P =0.001) as well as recessive models (CC vs. TT +CT genotype; OR= 3.72, P = 0.001).Conclusion: Our study for the first time suggests that the SIRT1 rs3758391 T/C polymorphism may confer an increased risk of CVD in both additive and recessive models, in this Iranian population.