CAJ | 학술논문

目的探讨转录因子7类似物2(TCF7L2)基因rs290487、rs11196205、rs11196218位点单核苷酸多态性(SNP)与妊娠期糖尿病(GDM)的关系.方法采用病例对照研究方法,选取中国北方地区无血缘关系的糖耐量受损(IGT)孕妇158例、GDM孕妇335例作为病例组,正常妊娠妇女647例作为对照组.提取所有受试者基因组DNA,用连接酶检测反应(LDR)分析TCF7L2基因rs290487、rs11196205、rs11196218位点基因型,并进行相关分析.结果在rs290487位点,C等位基因频率在病例组为41.6%,明显高于对照组的36.3%(P=0.012).病例组中CC基因型频率为18.7%,明显高于对照组的14.0%(P=0.033).CC基因型GDM发病风险与CT+TT基因型相比,比数比(OR)为1.418(95%CI 1.028～1.955),经logistic回归校正混杂因素后,OR值为1.518(95%CI 1.064～2.166).结论 TCF7L2基因rs290487位点SNP可能在GDM遗传易感性中起重要作用,CC基因型可能是其发生的危险因素.
목적 탐토전록인자7유사물2(TCF7L2)기인rs290487、rs11196205、rs11196218위점단핵감산다태성(SNP)여임신기당뇨병(GDM)적관계.방법 채용병례대조연구방법,선취중국북방지구무혈연관계적당내량수손(IGT)잉부158례、GDM잉부335례작위병례조,정상임신부녀647례작위대조조.제취소유수시자기인조DNA,용련접매검측반응(LDR)분석TCF7L2기인rs290487、rs11196205、rs11196218위점기인형,병진행상관분석.결과 재rs290487위점,C등위기인빈솔재병례조위41.6%,명현고우대조조적36.3%(P=0.012).병례조중CC기인형빈솔위18.7%,명현고우대조조적14.0%(P=0.033).CC기인형GDM발병풍험여CT+TT기인형상비,비수비(OR)위1.418(95%CI 1.028～1.955),경logistic회귀교정혼잡인소후,OR치위1.518(95%CI 1.064～2.166).결론 TCF7L2기인rs290487위점SNP가능재GDM유전역감성중기중요작용,CC기인형가능시기발생적위험인소.
Objective To investigate the relationship between gene polymorphism of transcripion factor 7-like 2 (TCF7L2) at positions rs290487, rs11196205, rs11196218 and gestational diabetes mellitus (GDM) in Chinese women.Methods In 1140 unrelated pregnant Northern Chinese women (335 women with GDM, 158 gestational cases with impaired glucose tolerance and 647 pregnant non-diabetic controls) ,three single nucleotide polymorphisms (rs290487, rs11196205, and rs11196218) in the TCF7L2 gene were genotyped using ligase detection reaction (LDR).In the present study, cases with GDM and impaired glucose tolerance (IGT) were indistinguishable clinically and biochemically, and were combined into case group.Results The frequency of C allele of rs290487 was 41.6% in case group, being significantly higher than that in control group (36.3%, P=0.012).There was significant difference in the frequency of CC genotype between case group and control group (18.7% vs 14.0%, P=0.033).Compared with T allele carriers, CC genotype carriers had a 1.418-fold increased risk of GDM (95% CI 1.028-1.955).After adjusting for age, body mass index, family history of diabetes,systolic blood pressure,and diastolic blood pressure, pregnant women with CC genotype carriers of rs290487 were more prone to hyperglycemia compared with the T allele carriers (OR 1.518, 95% CI 1.064-2.166).Conclusions The TCF7L2 rs290487 variant may contribute to the genetic predisposition to GDM.CC genotype is likely to be associated with an increased risk of GDM in the pregnant Chinese women.