【摘要】 目的探讨我国中部地区人群中造血干细胞表达同源盒(HHEX)基因多态性与GDM易感性的关系。方法采用病例对照研究,选取GDM患者311例(GDM组)和正常糖耐量的孕妇345名(GNGT组)。采用PCR-RFLP方法检测两个SNP位点多态性分布。结果GDM组TG、FPG以及HbA1c水平均高于GNGT组(P<0.05)。HHEX基因SNP位点rs5015480基因型(CC、CT、TT)及等位基因频率与GNGT组比较,差异有统计学意义(χ2=7.623,P=0.022;χ2=5.803,P=0.016),携带CC基因型人群GDM的风险比其他基因型风险高(OR3.899,95%CI1.808~8.409)。而SNP位点rs1111875基因型(GG、GA、AA)以及等位基因频率与GNGT组比较,差异均无统计学意义(χ2=3.151,P=0.207;χ2=1.671,P=0.196)。SNP位点CC基因型患者TG水平高于其他基因型患者(t=2.401,P=0.027);不同基因型HDL-C,LDL-C、FPG及HbA1c水平比较,差异无统计学意义(P>0.05)。结论 HHEX基因SNP位点rs5015480与GDM的易感性相关,且该位点多态性可能与TG水平有关。更多还原

【Abstract】 Objective To investigate the association between two single nucleotide polymorphisms(rs5015480 and rs1111875 in HHEX gene)and gestational diabetes mellitus(GDM)in pregnant Chinese women. Methods 311 women with GDM and 345 controls was recruited in this case-control study.The genotypes of two SNPs in HHEX gene were detected using PCR-RFLP.All the data were analyzed by SPSS 19.0. Results Compared with controls,the body weight,triglyceride and fasting plasma glucose was higher in GDM group(P<0.05).There was no association between polymorphism(SNP rs1111875)and GDM(P=0.207);but there was association between SNP(rs5015480)and GDM(χ2=7.623,P=0.022).The frequencies of risk genotype was higher in GDM group than in control group(CC vs CT+TT,P<0.01).The frequency of C allele was higher in GDM group(OR=1.370,95%CI1.060~1.772,P=0.016).There was difference between CC genotype and others(CT+TT)in TG levels(t=2.401,P=0.027). Conclusion SNP rs5015480 of the HHEX gene is associated with the susceptibility to GDM and may be related to the level of TG.更多还原