C5L2基因新的SNP位点C698T与新疆地区维吾尔族人群2型糖尿病的相关性研究  

Relationship between a novel polymorphism of C5L2 gene C698T and type 2 diabetes in Uygur population of Xinjiang region

作　　者：郑颖颖[1] 付真彦[1] 马依彤[1] 谢翔[1] 杨毅宁[1] 李晓梅[1] 杨思进[1] 刘芬[1] 陈邦党[1] 

机构地区：[1]新疆医科大学第一附属医院心脏中心,乌鲁木齐830011

出　　处：《中华内分泌代谢杂志》2012年第3期186-189,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金资助项目（81060021）

摘　　要：目的本研究旨在探讨促酰化蛋白（acylation—stimulating protein，ASP）的功能受体C5L2基因新的SNP位点C698T多态性与糖尿病的相关性。方法采用直接测序的方法，在C5L2基因第二外显子区发现新的SNP位点C698T；采用PCR-限制性片段长度多态性方法，对252例2型糖尿病患者和747名健康对照者C5L2基因C698T进行分析。结果C5L2基因C698T杂合子基因型在2型糖尿病组和对照组的分布频率分别为0．107和0．036，差异有统计学意义（r=18．576，P〈0．01）。在调整了年龄、性别、吸烟、饮酒，高血压、甘油三酯、总胆固醇、低密度脂蛋白胆固醇、高密度脂蛋白胆固醇等混杂因素后，C698T杂合子SNP仍为新疆维吾尔族人群2型糖尿病的独立危险因素（P〈0．01，OR=3．373，95％C／1．736—6．553）。结论在新疆维吾尔族人群中，C5L2基因C698T基因多态性与2型糖尿病具有相关性，CT基因型可增加新疆维吾尔族人群2型糖尿病发生的风险。Objective To investigate the relationship between a novel polymorphism of C5L2 gene and type 2 diabetes mellitus （T2DM） in Uygur population from Xinjiang region. Methods A novel single nueleotide polymorphism（ SNP）, 698C〉T（P233L） was found using a polymerase chain reaction direct-sequencing method. C5L2 gene 698C 〉 T variant from 252 patients with T2DM and 747 healthy control subjects was detected by polymerase chain reaction and restriction fragment length polymorphism. Result Heterozygote carriers of the 698CT genotype were more frequent among T2DM patients than that among controls （0. 107 vs O. 036, X2 = 18. 576, P〈 0. 01 ） in the Uygur population. After adjustment of confounding factors such as sex, age, smoking, alcohol consumption, and hypertension, as well as serum levels of triglyceride, total cholesterol, low-density lipoprotein- cholesterol, and high-density lipoprotein-cholesterol, the difference remained significant （ P 〈 0. 01, OR = 3. 373, 95% CI 1. 736-6. 553 ）. Conclusion The CT genotype of the C5L2 gene might be a risk factor of T2DM in Uygur nationality population in Xinjiang.

关 键 词：C5L2基因 促酰化蛋白 糖尿病 2型 维吾尔族 

分 类 号：R587.1[医药卫生—内分泌]