Cnb1基因多态性与2型糖尿病相关性研究  

Association between single nucleotide polymorphisms in Cnb1 gene with type 2 diabetes

作　　者：张芹[1] 骆天红[1] 张宏利[1] 李文毅[1] 许丽红[1] 赵萸[1] 李果[1] 罗敏[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院,上海市内分泌代谢病研究所,上海市内分泌代谢病临床医学中心,上海200025

出　　处：《诊断学理论与实践》2007年第2期115-118,共4页Journal of Diagnostics Concepts & Practice

基　　金：国家自然科学基金(30571019);高等学校全国优秀博士学位论文作者专项资金(200360);上海市科技发展基金(03QC14040)

摘　　要：目的:研究Cnb1基因的单核苷酸多态性(SNPs)在上海地区人群2型糖尿病(2-DM)患者和正常对照组人群中的基因型频率、等位基因频率分布及其与2-DM的相关性。方法:选取上海地区无亲缘关系的2-DM患者447例及正常对照440名。用稳态模式胰岛素抵抗指数(HOMA-R)及胰岛β细胞功能指数(HOMA-β)估测外周组织胰岛素敏感度及胰岛β细胞功能。采用等位基因专一性实时PCR技术,对2-DM患者及正常对照组人群Cnb1基因的5个SNP位点rs12329083、rs12465425、rs13029910、rs2861814及rs11692815进行基因分型;并进行统计学分析,研究这些位点与2-DM的相关性。结果:rs13029910的CC基因型频率在2-DM患者组中的含量较对照组显著升高(2.7%比0.7%,P=0.021),CC基因型个体2-DM发病风险增高,Logistic回归分析显示,其OR值(比值比)为4.266(P=0.035)。rs12329083(A/T)、rs12465425(G/T)、rs2861814(C/T)及rs11692815(A/G)位点的基因型频率、等位基因频率在2-DM组与正常对照组中的分布差异均无统计学意义(P>0.05)。结论:Cnb1基因可能与上海地区人群2-DM的遗传易感性有关,其中rs13029910多态性位点的基因型CC与2-DM发病风险增高相关。Objective To study the potential association between genetic variants in Cnb1 gene with type 2 diabetes mellitus in the population residing in Shanghai area. Methods The studied population consisted of 887 Chinese residents in Shanghai,including 447 type 2 diabetic patients and 440 well matched normal control subjects .The islet β- cell insulin secretion and tissue insulin sensitivity were assessed by formulae of homeostasis model assessment （HOMA-β＆HOMA-R）. Five different SNPs （rs12329083, rs12465425, rs13029910, rs2861814 and rs11692815） within Cnb1 gene were genotyped using the allele-specific real-time PCR method, and their associations with type 2 diabetes were examined. Results The frequency of genotype CC in diabetic patients was significantly higher than that in the control subjects（2.7% vs 0.7%,P=0.021）, and the odd ratio of genotype CC was estimated to be 4.266 （P=0.035）. No significant difference of allele distribution was found for the SNP rs12465425, rs12329083, rs11692815 and rs2861814. Conclusions Cnb1 gene may be associated with type 2 diabetes in the population residing in Shanghai area. Individuals carrying genotype CC of rs13029910 increases type 2 diabetes occurrence risk.

关 键 词：Cnb1 基因 单核甘酸多态性 2型糖尿病 

分 类 号：R587.1[医药卫生—内分泌]