Type 2 diabetes mellitus (T2D) as an important metabolic disorder is accompanied by dysregulation in lipid metabolism. Sterol regulatory element-binding factor-2 (SREBF-2) gene has a substantive role in lipid metabolism. Recently published report indicated the overexpression of this gene in diabetic patients. So, in this preliminary study we evaluated the effects of three common single nucleotide polymorphisms (SNPs), rs1052717G/A, rs2267439C/T, and rs2267443G/A in risk of T2D in a sample of Iranian population. Present case-control study consists of 250 patients with endocrinologically approved T2D and 250 healthy controls. The variants genotyped by using tetra amplification refractory mutation system polymerase chain reaction (Tetra ARMS-PCR) method. The findings demonstrated that the rs2267439C/T polymorphism increased the risk of T2D in all measured inheritance models (Codominant1; p = 0.003, codominant2; p = 0.014, dominant; p < 0.0001, recessive; p = 0.037, over-dominant; p = 0.0025, and log-additive; p = 0.0048) while our results did not show statistically association between rs1052717G/A and rs2267443G/A SNPs and T2D development. The current investigation indicated that the rs2267439C/T polymorphism in the SREBF-2 gene increased the T2D susceptibility in an Iranian population. Further studies with different ethnicities and more extensive sample sizes are demanded to confirm our finding.
Keywords: Gene polymorphism; Haplotype; Sterol regulatory element-binding proteins (SREBP); Type-2 diabetes mellitus.
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