摘要
目的探讨电压门控性钾通道Q亚家族成员1(KCNQ1)基因rs2237892(C/T),rs2237895(A/C),rs2237896(A/G)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KCNQ1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)SNP rs2237896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)SNP rs223782中,其三种基因型(CC、CT、TT)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。
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.
出处
《中国优生与遗传杂志》
2014年第2期13-15,61,共4页
Chinese Journal of Birth Health & Heredity
基金
广东省医学科研项目(编号A2011756)
中山市科技局资助项目(编号20113A017)
关键词
妊娠期糖尿病
KCNQ1基因
多态
Ges/ational diabetes mellitus
KCNQ1 gene
Polymorphism
