Objective: The aim of this study is to investigate the relationship between fat mass and obesity associated (FTO) gene polymorphism and the risk of gestational diabetes mellitus (GDM), and provide clues and basis for the study of GDM mechanism. Methods: The case group of GDM pregnant women who delivered at the First Affiliated Hospital of Shanxi Medical University from March 1, 2012 to July 30, 2014 were selected, and matched the control group among non-GDM pregnant women by age, gestational age and residential address, and 324 cases and 318 controls were finally included. DNA was extracted and genotyped, and min P test and unconditional logistic regression model were used to estimate the relationship between FTO gene polymorphism and GDM. Results: At gene level, we did not find the association between FTO and the risk of GDM (P>0.05). After adjusted for family history of diabetes, pre-pregnancy body mass index and multiple comparisons using false discovery rate method, unconditional logistic regression analysis showed that pregnant women who carried the rs11075995 TT genotype (OR=0.59, 95%CI: 0.35-0.89), rs3826169 GG genotype (OR=0.59, 95%CI: 0.35-0.88), and rs74245270 GA genotype (OR=0.69, 95%CI: 0.49-0.98), GA or AA genotype(OR=0.70, 95%CI: 0.50-0.97) had reduced risk of GDM. However, pregnant women who carried the rs74018601 GA genotype (OR=1.51, 95%CI: 1.07-2.12), GA or AA genotype (OR=1.46, 95%CI: 1.06-2.02), rs7205009 AA genotype (OR=1.83, 95%CI: 1.18-2.86), GA or AA genotype (OR=1.53, 95%CI: 1.08-2.19), and rs9888758 AG genotype (OR=1.43, 95%CI: 1.02-2.00) had elevated risk of GDM. Conclusion: The polymorphisms of FTO gene rs11075995,rs3826169, rs74245270, rs74018601, rs7205009 and rs9888758 were associated with the risk of GDM.
目的： 探讨肥胖相关（FTO）基因及多态性位点与妊娠期糖尿病（GDM）发病风险的关系，为GDM机制研究提供线索与依据。 方法： 以2012年3月1日至2014年7月30日在山西医科大学第一医院产科分娩的孕妇为研究对象，将诊断为GDM的孕妇作为病例组，并按年龄、妊娠时间及居住地1∶1频数匹配非GDM孕妇作为对照组，最终纳入324例病例和318例对照，提取孕妇外周血DNA并进行基因分型，应用min P检验和非条件logistic回归分析FTO基因及多态性位点与GDM发病风险的关系。 结果： min P法结果显示，FTO基因与GDM发病风险无关（P>0.05）。在调整糖尿病家族史、孕前BMI且调整多重比较后，非条件logistic回归分析结果显示，在FTO基因的多态性位点中，携带rs11075995位点TT基因型与AA基因型孕妇相比（OR＝0.59，95%CI：0.35～0.89），携带rs3826169位点GG基因型与携带AA基因型孕妇相比（OR＝0.59，95%CI：0.35～0.88），携带rs74245270位点GA基因型（OR＝0.69，95%CI：0.49～0.98）、GA或AA基因型（OR＝0.70，95%CI：0.50～0.97）与GG基因型孕妇相比，均是GDM的保护因素；相反，携带rs74018601位点GA基因型（OR＝1.51，95%CI：1.07～2.12）、GA或AA基因型（OR＝1.46，95%CI：1.06～2.02）与GG基因型孕妇相比，携带rs7205009位点AA基因型（OR＝1.83，95%CI：1.18～2.86）、GA或AA基因型（OR＝1.53，95%CI：1.08～2.19）与携带GG基因型孕妇相比，携带rs9888758位点AG基因型与携带AA基因型孕妇相比（OR＝1.43，95%CI：1.02～2.00），均是GDM的危险因素。 结论： FTO基因rs11075995、rs3826169、rs74245270、rs74018601、rs7205009与rs9888758位点多态性与GDM的发病风险有关。.
Keywords: Fat mass and obesity associated; Gene polymorphism; Gestational diabetes mellitus.