KCNQ1基因多态性与2型糖尿病易感性相关研究

Association study of single nucleotide polymorphisms in KCNQ1 and susceptibility of type 2 diabetes

目的探讨KCNQ1基因单核苷酸多态性（SNPs）与2型糖尿病易感性的关系。方法应用基质辅助激光解吸附电离飞行时间质谱（MALDFFOF—Ms）平台以及MassARRARY—iPLEX技术，分别对238例2型糖尿病患者和240例正常对照组KCNQl基因的三个单核苷酸多态性位点（rs231361、rs231359和rs2237892）进行基因分型，并分析KCNQI基因位点在两组间的差异。结果rs2237892存在CC、TC、TT三种基因型多态性，在对照组中的基因型频率分别为45．5％、40．7％、13．8％，在病例组中的基因型频率分别为44．4％、49．6％、6．0％，该位点在对照组和病例组中分布差异有统计学意义（x2=9．334，P=0．009）。相较于cc基因型，TT基因型其OR（95％CI）分别为0．416（0．206-0．840）（P=0．014）。位点rs231361和rs231359均存在三种多态性，但在病例组和对照组间差异无统计学意义。结论KCNQ1基因位点rs2237892与2型糖尿病易感性相关，位点rs231361和rs231359与2型糖尿病易感性不相关。

Objective To explore whether gene KCNQ1 single nucleotide polymorphisms （SNPs） are related with type 2 diabetes predisposition. Methods Three SNPs （rs231361, rs231359 and rs2237892） of gene KCNQ1 are detected by MassARRARY-iPLEX systems in 238 type 2 diabetes patients and 240 healthy controls.These results were used to assess the relation between susceptibility of type 2 diabetes and genotypes distribution. Results The frequencies of three genotypes CC,TC and TT of rs2237892 were 45.5%,40.7%,13.8% in controls and 44.4%, 49.6% and 6.0% in patients, respectively, showing a significant difference between the controls and the cases（x2=9.334,P=0.009）, thus we concluded that the rs2237892 had a close relation with the susceptibility to type 2 diabetes. Compared with the genotype CC,TT was photective for type 2 diabetes （OR=O.416,95%Cl：O.206-O.840）.rs231361 and rs231359 showing no significant difference between controls and cases. Conclusion The polymorphism of rs2237892 in KCNQ1 is associated with the predisposition to type 2 diabetes, while rs231361 and rs231359 in KCNQ1 not associated with type 2 diabetes.