电压门控性钾通道Q亚家族成员1基因多态性与淮海地区2型糖尿病的关联研究

摘要

目的 探讨电压门控性钾通道Q亚家族成员1(KCNQ1)基因多态性与中国淮海地区汉族人群2型糖尿病(T2DM)的关系.方法 选取2010年12月-2011年7月徐州医学院附属医院内分泌科住院及门诊的T2DM患者200例为病例组,另选取同时期同地区体检中心筛选的健康人群200例作为对照组.采用聚合酶链式反应-限制性片断长度多态性(PCR-RFLP)方法对两组受检者进行基因多态性检测.结果 (1)对照组中KCNQ1 rs2237892位点CC、CT、TT基因型分别占36.0%(72/200)、51.0%(102/200)和13.0%(26/200),C、T等位基因频率分别为61.5%(246/400)和38.5%(154/400);病例组中CC、CT、TT基因型频率分别为47.5%(95/200)、44.0%(88/200)和8.5%(17/200),C、T等位基因频率分别为69.5%(278/400)和30.5%(122/400).两组受试者KCNQ1 rs2237892位点基因型分布及等位基因频率比较,差异均有统计学意义(P＜0.05).(2)对照组及病例组KCNQ1 rs151290位点基因型分布及C、A等位基因频率比较,差异均无统计学意义(P＞0.05).结论 KCNQ1 rs2237892位点多态性可能与中国淮海地区汉族人群T2DM的发病有关;而rs151290位点多态性可能与中国淮海地区汉族人群T2DM的发病无关.%Objective To investigate the correlation between KCNQ1 gene polymorphism and type 2 diabetes mellitus (T2DM) in Chinese Han population in Huaihai region. Methods 200 T2DM inpatients and outpatients admitted to the Department of Endocrinology of the Affiliated Hospital of Xuzhou Medical College were selected as case group and 200 healthy people underwent physical examinations in the same region and period were selected as control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect gene polymorphisms in the two groups. Results (1) In the control group, the genotypes of CC, CT and TT in KCNQ1 rs2237892 accounted for 36. 0% (72/200), 51. 0% (102/ 200) and 13. 0% (26/200) respectively and the allele frequencies of C and T were 61. 5% (246/400) and 38. 5% (154/400) respectively. In the case group, the genotype frequencies of CC, CT and TT were 47. 5% (95/200), 44. 0% (88/200) and 8. 5% (17/200) respectively and the allele frequencies of C and T were 69. 5% (278/400) and 30. 5% (122/400) . The genotype distribution and allele frequencies in KCNQ1 rs2237892 between the two groups showed statistically significant differences (P <0. 05) . (2) The genotype distributions and allele frequencies in KCNQ1 rs151290 between the two groups showed no statistically significant differences (P >0. 05) . Conclusion KCNQ1 rs2237892 polymorphism may be associated with the incidence of type 2 diabetes mellitus among Chinese Han population in Huaihai region. The polymorphism of KCNQ1 rs151290 may have nothing to do with the incidence of type 2 diabetes mellitus in Chinese Han population in Huaihai region.