KCNJ11基因单核苷酸多态性E23K与2型糖尿病遗传易感性相关性分析

Correlation between the polymorphism of potassium ion inward rectifying channel protein subunit 11 gene E23 Kand the genetic susceptibility of type 2 diabetes mellitus

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 2 diabetes，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0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、KK3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 explore the correlation between the polymorphism of potassium ion inward rectifying channel protein subunit 11 （KCNJ11） gene E23K and the genetic susceptibility of type 2 diabetes mellitus （T2DM）. Methods The polymorphism of KCNJ11 gene E23K was detected by using PCR restriction fragment length polymorphism technique in 100 patients with T2DM （observation group） and 100 healthy volunteers （control group）. The gene frequency and allele frequency were compared between two groups, and the relative risk factors for T2DM were analyzed. Results In observation group, the body mass index, waist-hip ratio, triacylglycerol, total cholesterol, fasting plasma glucosa, fasting insulin, insulin resistance index and nonesterified free fatty acids were significantly higher, and high density lipoprotein-eholesterol, and high density lipoprotein-cholesterol and islet 13-cell function index were significantly lower than those in control group （P〈0.05）. There were no significant differences in EE, EK and KK genes frequencies of KCNJll gene E23K （33%, 44%, 18%） and E, K allele frequency （60%, 40%） between observation group and control group （33%, 52%, 15%, 59%, 41%） （P〉0.05）. The islet %-cell function index （OR=0. 096, 95%CI： 0. 316 to 0. 441, P=0. 000） and high density lipoprotein-cholesterol （OR=0. 084, 95%CI： 0. 039 to 0. 268, P=0. 000） were the protective factors for T2DM, and triacylglycerol （OR=1. 382, 95%CI： 1. 082 to 1. 964, P=0. 041） and waist/hip ratio （OR=2. 765, 95%CI： 1. 182 to 7. 562, P=0. 040） were the risk factors for T2DM. Conclusion There is no obvious correlation between KCNJll gene E23K polymorphism and genetic susceptibility of T2DM. The islet β-cell function index and high density lipoprotein-cholesterol are the protective factors for T2DM, and triacylglycerol and waist/hip ratio are the risk factors for T2DM.