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目的探讨钾离子内向整流通道蛋白亚单位11(potassium ion inward rectifying channel protein subunit 11,KCNJ11)基因E23K多态性与2型糖尿病(type 2diabetes,T2DM)遗传易感性的关系。方法 100例确诊T2DM患者为观察组,体检健康者100例为对照组,采用PCR-限制性片段长度多态性检测2组外周血有核细胞基因组DNA中KCNJ11基因E23K位点多态性,比较2组KCNJ11基因频率和等位基因频率,分析T2DM的相关危险因素。结果观察组体质量指数、腰臀比、三酰甘油、总胆固醇、空腹血糖、空腹胰岛素、胰岛素抵抗指数和非酯化游离脂肪酸高于对照组,高密度脂蛋白胆固醇、胰岛β细胞功能指数低于对照组(P<0.05);观察组KCNJ11基因E23K位点EE、EK、KK 3种基因频率(38%、44%、18%)和E、K等位基因频率(60%、40%)与对照组(EE为33%、EK为52%、KK为15%,E为59%、K为41%)比较差异均无统计学意义(P>0.05);胰岛β细胞功能指数(OR=0.096,95%CI:0.316~0.441,P=0.000)、高密度脂蛋白胆固醇(OR=0.084,95%CI:0.039~0.268,P=0.000)是T2DM的保护因素,三酰甘油(OR=1.382,95%CI:1.082~1.964,P=0.041)、腰臀比(OR=2.765,95%CI:1.182~7.562,P=0.040)是T2DM的危险因素。结论 KCNJ11基因E23K多态性与T2DM遗传易感性关系无明显相关性,胰岛β细胞功能指数和高密度脂蛋白胆固醇是T2DM的保护因素,三酰甘油和腰臀比是T2DM的危险因素。
Objective To investigate the genetic susceptibility of type 2 diabetes mellitus (T2DM) to the E23K polymorphism of potassium ion inward rectifying channel protein subunit 11 (KCNJ11) gene. Methods 100 cases of T2DM were selected as observation group and 100 cases of healthy subjects as control group. PCR-restriction fragment length polymorphism (PCR-RFLP) was used to detect the E23K polymorphism of KCNJ11 gene in two groups of peripheral blood nucleated cells Two groups of KCNJ11 gene frequency and allele frequency, analysis of T2DM related risk factors. Results Body mass index, waist-hip ratio, triglyceride, total cholesterol, fasting blood glucose, fasting insulin, insulin resistance index and non-esterified free fatty acid in observation group were higher than those in control group, high density lipoprotein cholesterol, low beta cell function index (38%, 44%, 18%) and E, K allele frequency (60%, 40%) in E23K locus of KCNJ11 gene in observation group (P <0.05) Compared with the control group (EE 33%, EK 52%, KK 15%, E 59%, K 41%), there was no significant difference (P> 0.05) (OR = 0.084, 95% CI: 0.039-0.268, P = 0.000) were the protective factors of T2DM. The triglyceride (OR = 1.382, P = 0.000) , 95% CI: 1.082-1.964, P = 0.041). The WHR (OR = 2.765,95% CI: 1.182-7.562, P = 0.040) was a risk factor for T2DM. Conclusion There is no significant correlation between E23K polymorphism of KCNJ11 gene and genetic susceptibility to T2DM. Islet β-cell function index and high density lipoprotein cholesterol are the protective factors of T2DM. Triglyceride and waist-hip ratio are risk factors of T2DM.