Hameed Iqra, Masoodi Shariq R, Afroze Dil, Naykoo Niyaz A, Bhat Riyaz A, Ganai Bashir A
1 Department of Biochemistry, University of Kashmir , Srinagar, India .
Genet Test Mol Biomarkers. 2013 Oct;17(10):775-9. doi: 10.1089/gtmb.2013.0297. Epub 2013 Aug 22.
The prevalence of type 2 diabetes mellitus has reached epidemic proportions worldwide. Type 2 diabetes is a consequence of complex interactions among multiple genetic variants and environmental risk factors. Polymorphisms in various candidate genes confer susceptibility to diabetes. This study was undertaken to analyse a single nucleotide polymorphism Trp64Arg (C↔T) in the ADRB3 gene and elucidate its effects on type 2 diabetes and its associated risk factors. The study included 200 type 2 diabetes patients and 300 age and gender matched healthy controls belonging to the ethnic Kashmiri population. Polymerase chain reaction-restriction fragment length polymorphism technique was used for genotyping and the results were validated by direct sequencing assay. Genotypes for Trp64Arg polymorphism were in Hardy-Weinberg equilibrium (χ(2)=0.48, p=NS). Frequency of the Arg64 allele was 40% and 10.2% in cases and controls, respectively (p<0.05; odds ratio 5.89; 95% CI; 3.69-9.39). The Arg64 allele was directly related to higher body mass index, waist-to-hip ratio, dyslipidemia and uncontrolled disease status. The study signifies that the Arg64 allele of the ADRB3 gene is a genotypic risk factor and confers susceptibility to type 2 diabetes, whereas the homozygous Trp64 genotype exerted a protective effect in our population.
2型糖尿病的患病率在全球已达到流行程度。2型糖尿病是多种基因变异与环境风险因素之间复杂相互作用的结果。各种候选基因中的多态性赋予了糖尿病易感性。本研究旨在分析ADRB3基因中的单核苷酸多态性Trp64Arg（C↔T），并阐明其对2型糖尿病及其相关风险因素的影响。该研究纳入了200例2型糖尿病患者以及300名年龄和性别匹配的克什米尔族健康对照者。采用聚合酶链反应-限制性片段长度多态性技术进行基因分型，并通过直接测序分析对结果进行验证。Trp64Arg多态性的基因型处于哈迪-温伯格平衡（χ(2)=0.48，p=无显著性差异）。Arg64等位基因在病例组和对照组中的频率分别为40%和10.2%（p<0.05；优势比5.89；95%置信区间；3.69-9.39）。Arg64等位基因与较高的体重指数、腰臀比、血脂异常以及疾病控制不佳状态直接相关。该研究表明，ADRB3基因的Arg64等位基因是一种基因型风险因素，赋予了2型糖尿病易感性，而纯合Trp64基因型在我们的人群中发挥了保护作用。
