中山地区人群KCNQ1基因多态性与妊娠期糖尿病相关性研究

目的探讨电压门控性钾通道Q亚家族成员1（KCNQl）基因rs2237892（C／T），m2237895（A／C），rs2237896（AVG）位点单核苷酸多态性与中山地区人群妊娠期糖尿病（GDM）的关系。方法本研究共采用2011年-2013年中山市南朗医院和中山市博爱医院共285例孕妇，其中GDM组185例，血糖正常100例设为对照组。采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）检测KCNQl基因多态性，评估其与GDM的相关性。GDM组和对照组基因型分布运用logistic回归模型分析。GDM组相关表型运用多重回归模型分析。结果（1）SNPrs2237896的三种基因型（AA、AG、GG）在GDM组和对照组分布频率分别是4．8％，42．2％，53．0％和3．0％，28．0％，69．0％，两组的基因型分布频率差异显著（P=0．032，P〈0．05）。Rs2237896等位基因A、G的分布频率（26％。74％）高于对照组（17％，83％），差异具有显著性（P=0．015）。（2）SNPm223782中，其三种基因型（CC、CT、1Tr）在GDM组和对照组分布频率分别是24．8％，68．1％，8．1％和38％，49％，13％，其基因型分布频率两组具有显著差异（P=0．007，P〈0．05），但是Rs2237892等位基因C、T的分布频率并不具有差异（P=0．279，P〉0．05）。结论KCNQ1基因SNPrs2237896多态性可能与中国中山市人群中GDM发病具有一定相关性。

Studies on polymorphism of KCNQ1 gene in GDM patients in Zhongshan region

Objective： This study aimed to examine possible genetic effects of three KCNQ1 polymorphisms （rs2237892, rs2237895, rs2237896） on the risk of GDM of Zhongshan city population. Methods： A total of 185 pregnant women were recruited, of which 185 women had GDM and 100 served as controls. Three single nucleotide polymorphism （rs2237892, rs2237895, rs2237896） of KCNQ1 were genotyped using a polymerase chain reaction - restriction fragment length polymorphism （ PCR - RFLP） method. The genotype distributions between GDM and controls were analyzed using logistic regression models. In addition, GDM - related pheno- types were analyzed using multiple regression models. Results ： （ 1 ） The AA, AG, and GG genotype frequencies of SNP rs2237896 variant differed significantly between GDM group and controls （4. 8%, 42. 2%, 53.0% and 3.0%, 28.0%, 69.0% ）, the geno- type frequencies between the two group was statistically significant differences （P = 0. 012, P 〈 0. 05 ）. In GDM, the allele frequen- cies of A, G （26%, 74% ） was higher than the controls （ 17%, 83% ）, which showed statistically significant differences （P = 0. 015, P 〈0. 05）. （2） The CC, CT and TY genotype frequencies of SNP rs2237892 variant differed between GDM group and con- trois （24. 8%, 68. 1%, 8. 1% and 38%, 49%, 13% ）, but the allele frequencies of C, T between two groups showed no statisti- cally significant differences. Conclusion： KCNQ1 polymorphism rs2237896 shown to be associated with increased risk for GDM in Zhongshan population.