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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 To investigate the relationship between single nucleotide polymorphisms of rs2237892 (C / T), rs2237895 (A / C), rs2237896 (A / G) and the KCNQ1 gene in voltage-gated K + Gestational diabetes mellitus (GDM). METHODS: A total of 285 pregnant women from Zhongshan Nanlang Hospital and Zhongshan Pok Oi Hospital from 2011 to 2013 were enrolled. Among them, 185 cases of GDM group and 100 cases of normal blood glucose were selected as control group. The KCNQ1 gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and its correlation with GDM was evaluated. GDM group and control group genotype distribution using logistic regression model analysis. GDM group related to the use of multiple regression model analysis. Results The frequencies of AA, AG and GG in SNP rs2237896 were 4.8%, 42.2%, 53.0% and 3.0%, 28.0% and 69.0% in GDM group and control group, respectively Type distribution frequency difference was significant (P = 0.032, P <0.05). The frequencies of alleles A and G of Rs2237896 (26%, 74%) were higher than that of control group (17%, 83%). The difference was significant (P = 0.015). (2) The SNP rs223782 genotypes (CC, CT, TT) in GDM group and control group were 24.8%, 68.1%, 8.1% and 38%, 49% and 13% There was significant difference between the two groups (P = 0.007, P <0.05). However, there was no difference in the frequencies of C and T between the two groups (P = 0.279, P> 0.05). Conclusion SNP rs2237896 polymorphism of KCNQ1 gene may be related to the incidence of GDM in Zhongshan population of China.