河南农村汉族人群KCNQ1基因rs2299620位点多态性与2型糖尿病的关系

Association of rs2299620 of KCNQ1 gene polymorphism with type 2 diabetes mellitus in Han population from Henan rural area

目的:探讨河南农村汉族人群中KCNQ1基因rs2299620位点多态性与2型糖尿病易感性的关联。方法:采用1∶1匹配的病例对照研究设计,通过问卷调查获得522对研究对象的基本情况;rs2299620位点基因型采用Taqman荧光探针分析获得。采用条件logistic回归分析rs2299620位点多态性与2型糖尿病易感性的关联;采用MDR模型和叉生分析探讨基因-环境的交互作用。结果:调整多种环境因素后,rs2299620位点CC和(TC+CC)基因型与河南农村汉族人群2型糖尿病易感性增加有关联,OR(95%CI)分别为1.74(1.11~2.75)和1.56(1.02~2.40)。以等位基因T为参照,等位基因C增加2型糖尿病的易感性,OR(95%CI)为1.16(1.04~1.29)。进一步分析显示,在2型糖尿病易感性的影响因素中rs2299620位点多态性与体质指数存在交互作用,OR(95%CI)为1.04(1.02~1.08)。结论:KCNQ1基因rs2299620位点多态性与河南农村汉族人群2型糖尿病易感性有关联,且该位点多态性与体质指数对2型糖尿病的发生具有交互作用。

Aim： To explore the association between KCNQ1 gene rs2299620 loci polymorphism and the prevalence of type 2 diabetes mellitus（ T2 DM） in rural Han population from Henan Province. Methods： A 1∶1 case-control study was conducted,and the basic characteristics of the subjects were collected through a standardized questionnaire. Taqman fluorescence probe was used to analyze the genotype of rs2299620 loci. The conditional logistic regression analysis was built to estimate the relationship between rs2299620 loci polymorphism and T2 DM. The multifactor dimensionality reduction（ MDR） model and crossover analysis were used to estimate the interaction between gene and environment factors. Results： The genotype CC and TC ＋ CC of rs2299620 loci increased the risk of T2 DM after adjusting environments factors,and the corresponding OR（ 95%CI） were 1. 74（ 1. 11-2. 75） and 1. 56（ 1. 02-2. 40）,respectively. Compared with T allele in rs2299620 loci,the OR（ 95% CI） of C allele for T2 DM was 1. 16（ 1. 04-1. 29）. The interaction between rs2299620 locus and body mass index on the susceptibility of T2 DM was observed,and OR（ 95% CI） was 1. 04（ 1. 02-1. 08）. Conclusion： The rs2299620 loci polymorphism of KCNQ1 gene is associated with the susceptibility of T2 DM in rural Han population from Henan Province,and there is interaction between rs2299620 loci polymorphism and body mass index.