论文部分内容阅读
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rs1 799 752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(χ2=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.
To investigate the relationship between the polymorphism of rs1 799 752 insertion site (I / D) and its association with Type II diabetes mellitus (T2DM) in the Kirgiz and Uyghur populations of Xinjiang.Methods A case-control study was designed to collect 117 unrelated and age-matched Kirgiz samples of Xinjiang and 127 Uyghur samples, which were divided into type 2 diabetes mellitus group (T2DM), impaired glucose tolerance group (IGT) And normal glucose tolerance (NGT) group, the population representativeness of the study samples was confirmed by the Hardy-Weinberg equilibrium test, and the ACE gene I / D polymorphism was detected by PCR.Results (1) (2) The Kirgiz population was 42.74% for DD, 31.58% for ID and 26.50% for type II, and the frequencies of D and I alleles were 58.115 % And 41.876%, respectively. The Uygur DD genotype was 35.43%, the ID genotype was 28.35%, the genotype II was 36.22%, and the frequencies of D and I allele were 49.626% and 50.387%, respectively. (3) The difference of ACE gene frequency between Kirgizi (χ2 = 70.11, P <0.01), Uygur (χ2 = 35.11, P <0.01) Section abnormality group and normal glucose tolerance group were statistically significant.The individuals with T2 genotype carrying T2, ID, ID + DD genotype had abnormal glucose metabolism (T2DM + IGT) than those with genotype II in Uigur T2DM group (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). The individuals carrying the D allele were more likely to carry (OR = 4.444, 95% CI = 2.617-7.576), while the Kirgiz DD, ID + DD genotypes and D allelic pairs were associated with increased risk of T2DM + IGT in the I allele The risk of T2DM + IGT was lower.Conclusion The ACE gene I / D polymorphism is associated with T2DM in Xinjiang ethnic minorities, and the I / D polymorphism of ACE gene may be the risk factor of Uygur T2DM. The Kirgizi Protection factor.