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

发布时间：2018-06-22 15:14

本文选题：亚甲基四氢叶酸还原酶 + 多态性　；参考：《中华疾病控制杂志》2017年07期

【摘要】：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HW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。
[Abstract]:Objective to investigate the distribution of MTHFR genotypes in pregnant women in Shanghai and to analyze the association between MTHFR C677T gene polymorphism and hyperhomocysteinemia in order to provide evidence for genetic screening and perinatal folic acid intake in high-risk pregnant women. Methods from January 2015 to June 2015, 1000 outpatients were selected from five community hospitals in Shanghai to investigate basic information, exposure to risk factors during pregnancy and folic acid intake. MTHFR genotypes were detected by gene chip method. Plasma homocysteine was detected by circulating enzyme method. Results the detection frequencies of MTHFR C677T CC and CT type TT were 33.0 and 49.2%, respectively. The frequency of allele C677T was 57.6% and 42.4%, respectively. The sample population was in HW equilibrium state. The plasma homocysteine concentration was 11.22 渭 mol / L (9.15 卤13.52) 渭 mol / L, of which 911 cases (91.6%) were normal and 84 cases (8.4%) belonged to mild hyperhomocysteinemia. The OR values of hyperhomocysteinemia in CT and TT were 2.18 (95CI: 1.114.25) and 6.26 (95CI: 3.1312.53) by multivariate logistic regression analysis. Conclusion the polymorphism of MTHFR gene C677T is associated with plasma homocysteine level in pregnant women.
【作者单位】：复旦大学公共卫生学院流行病学教研室(公共卫生安全教育部重点实验室);
【基金】：上海市卫生和计生委面上项目(201440301)
【分类号】：R715.3

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