柯尔克孜族和维吾尔族ACE基因多态性与2型糖尿病的关联研究

探讨新疆柯尔克孜族和维吾尔族人群血管紧张素转化酶（ACE）基因rs1799752位点插入或缺失（I/D）多态性及其与2型糖尿病（TypeⅡdiabetes mellitus,T2DM）的关系．方法采用病例-对照的研究设计．采集无血缘关系、年龄性别匹配的新疆柯尔克孜族样本117例、维吾尔族样本127例，分为2型糖尿病组（T2DM）、糖耐量异常组（impaired glucose tolerance, IGT）和糖耐量正常组（normal glucose tolerance, NGT），以Hardy-Weinberg平衡检验确认研究样本的群体代表性，采用PCR技术检测ACE基因I/D多态性．结果（1）病例组与对照组ACE基因多态性的分布符合Hardy-Weinberg平衡定律，所选人群具有代表性；（2）柯尔克孜族DD型42.74%，ID型31.58%，II型26.50%，D和I 等位基因频率分别为58.115%和41.876%；维吾尔族DD型35.43%，ID型28.35%，II型36.22%，D和I 等位基因频率分别为49.626%和50.387%．（3）ACE基因频率差异在柯尔克孜族（χ2=70.11,P 〈0.01），维吾尔族（χ^2=35.11,P〈0.01）的糖调节异常组与糖耐量正常组间，分别具有统计学意义．在维吾尔族T2DM组中携带DD、ID、ID＋DD基因型的个体较携带II基因型的个体发生糖代谢异常（T2DM＋IGT）的危险性增加（OR=7.812，95%CI=3.135-19.607；OR=4.854，95%CI=1.835-12.821；OR=6.410，95%CI=2.865-14.286，携带D等位基因的个体较携带I等位基因的个体发生糖代谢异常（T2DM＋IGT）的危险性增加（OR=4.444，95%CI=2.617-7.576），而柯尔克孜族DD、ID＋DD基因型和D等位基因性对糖代谢异常（T2DM＋IGT）的发病风险降低．结论ACE基因I/D多态性与新疆两个少数民族T2DM相关，ACE基因I/D多态性可能是维吾尔族T2DM的危险因素，柯尔克孜族的保护因素．

Study of ACE Gene Polymorphism and Susceptibility to Type 2 Diabetes in Uighur and Kirgiz

Objective To identify the association between ACE I/D polymorphism and genetic susceptibil-ity of type 2 diabetes（T2DM） among two minorities in XinJiang. Methods Case-control design was applied. Gender-matched and age-matched random samples of the two minorities was recruited from separate hospitals and grouped into normal glucose tolerance （NGT）, impaired glucose tolerance（IGT） and T2DM subgroups. The genotypes of ACE I/D polymorphism were detected by tolerance（IGT） and T2DM subgroups. The genotypes of ACE I/D polymorphism were detected by polymerase chain reaction （ PCR） methods. Re-sults The genotypic and allelic frequencies of ACE polymorphism Accord with Hardy-Weinberg equilibrium principle the genotypic frequencies of ACE polymorphism in kirgiz respectively DD 42.74% ,ID 31.58% ,II 26.50%,allelic frequencies of D and I was 58.115%41.876%. There was significant difference of the genotypic and allelic frequencies of ACE polymorphism between Patients （T2DM or IGT） and controls（NGT） group. Respectively,in kirgiz（χ^2=70.11,P〈0.01）and（χ2=35.11,P〈0.01）in uyghur people. Multivariate logistic re-gression analysis indicated that DD increased the risk of T2DM for Uyghur（OR=7.812, 95%CI=3.135-19.607;OR=4.854, 95%CI=1.835-12.821; OR=6.410, 95%CI=2.865-14.286.Conclusion： ACE gene polymorphisms were distributed distinctively in Uyghur, Kirgiz ethnic groups in XinJiang. DD might be risk factor of T2DM for Uyghur ethnic group while be protective factor for Kirgiz.