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SREBF-2 基因多态性与伊朗人群 2 型糖尿病风险的关联研究。

Association study of SREBF-2 gene polymorphisms and the risk of type 2 diabetes in a sample of Iranian population.

机构信息

Cellular and Molecular Research Center, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran; Clinical Immunology Research Center, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.

Department of Biology, Zabol University, Zabol, Iran.

出版信息

Gene. 2018 Jun 20;660:145-150. doi: 10.1016/j.gene.2018.03.080. Epub 2018 Mar 27.

Abstract

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.

摘要

2 型糖尿病(T2D)是一种重要的代谢紊乱疾病,伴随着脂质代谢失调。固醇调节元件结合蛋白-2(SREBF-2)基因在脂质代谢中具有实质性作用。最近发表的报告表明,该基因在糖尿病患者中过度表达。因此,在这项初步研究中,我们评估了伊朗人群中三个常见的单核苷酸多态性(SNP),即 rs1052717G/A、rs2267439C/T 和 rs2267443G/A 对 T2D 风险的影响。本病例对照研究包括 250 例内分泌确诊的 T2D 患者和 250 例健康对照者。采用四聚体扩增不耐受突变系统聚合酶链反应(Tetra ARMS-PCR)方法对变异进行基因分型。研究结果表明,rs2267439C/T 多态性在所有测量的遗传模型中均增加了 T2D 的发病风险(共显性 1:p=0.003,共显性 2:p=0.014,显性:p<0.0001,隐性:p=0.037,超显性:p=0.0025,对数相加:p=0.0048),而我们的结果并未显示 rs1052717G/A 和 rs2267443G/A SNP 与 T2D 发展之间存在统计学关联。本研究表明,SREBF-2 基因中的 rs2267439C/T 多态性增加了伊朗人群 T2D 的易感性。需要进行不同种族和更大样本量的进一步研究来证实我们的发现。

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