上海地区孕妇MTHFR C677T基因多态性与血浆同型半胱氨酸水平的关联性分析

目的 了解上海市孕妇MTHFR基因型的分布情况，分析MTHFR C677T基因多态性与高同型半胱氨酸血症的关联性，为高危孕妇的遗传筛查及围产期叶酸摄入的个性化提供依据。方法 选取上海市五所社区医院2015年1月~2015年6月门诊建卡孕妇1000例，随访了解基本信息、孕期危险因素暴露及叶酸摄入情况，以基因芯片法检测MTHFR基因型，循环酶法检测血浆同型半胱氨酸。结果 上海地区孕妇MTHFR C677T基因CC型、CT型、TT型的检出频率分别为33.0%、49.2%、17.8%，等位基因C、T的频率为57.6%、42.4%，样本人群处于H-W平衡状态。血浆同型半胱氨酸浓度为11.22（9.15，13.52）μmol/L，其中911例（91.6%）正常，84例（8.4%）属轻度高同型半胱氨酸血症。经多因素logistic回归分析，CT型与TT型发生高同型半胱氨酸血症的OR值分别为2.18（95%CI:1.11~4.25）和6.26（95%CI:3.13~12.53）。结论 MTHFR基因C677T多态性与孕妇血浆同型半胱氨酸水平存在关联，携带等位基因T者可视为高危孕妇，孕期叶酸补充可适量增加。

Study on the association between MTHFR gene polymorphism and the hyperhomocysteinemia among pregnant women in Shanghai

Objective To investigate the distribution of MTHFR gene polymorphism among pregnant women in Shanghai and to explore the relationship between MTHFR gene C677T polymorphism and hyperhomocysteinemia,providing references for genetic screening of high-risk pregnant women and individual folate supply during periconceptional care.Methods A total of 1 000 pregnant women from 5 community hospitals in Shanghai for archiving from January to June in 2015 were enrolled in the present study.The data of their basic information,risk factors during pregnancy and folate intake were collected.MTHFR genotypes and concentration of Hcy were detected using blood samples.Results The genotype frequency of CC,CT and Tl was 33.0％,49.2％,17.8％,respectively,and the allele frequency of C and T was respectively 57.6％ and 42.4％.The concentration of serum Hcy was 11.22 (IQR,9.15,13.52) μmol/L,among which 84 (8.4％) were mild hyperhomocysteinemia.Multivariate analysis indicated a significant association between T allele and hyperhomocysteinemia (ORcT =2.18,95％ CI:1.11-4.25;ORTr =6.26,95％ CI:3.13-12.53).Conclusions The polymorphism of MTHFR C677T are associated with hyperhomocysteinemia among pregnant women in Shanghai.Women with T allele should be regarded as high-risk and take more folate during periconceptional care.