亚甲基四氢叶酸还原酶基因C677T多态性与山东汉族人子痫前期的相关性研究

Investigation on the association between MTHFR gene C677T polymorphism and pre-eclampsia

目的：探讨亚甲基四氢叶酸还原酶（methylenetelrahydmfolate reductase，MTHFR）基因C677T多态性与山东汉族人子痫前期的关系。方法：采用聚合酶链反应-限制性片段长度多态分析法对42例子痫前期患者和64例正常对照孕妇进行了MTHFR基因C677T等位基因检测，计算患者组与对照组的基因型频率以及该多态性与子痫前期的相关性。结果：患者组与对照组C／T杂合子频率分别为45.24％和62．50％；T／T纯合子频率分别为40.48％和17.19％。对TT基因型与子痫前期的相关性分析表明，TT基因型的妇女患子痫前期的风险是非TT基因型妇女的3．276倍（0RT／T=3．276，95％可信区间1.339～8.020；P=0．008）。结论：MTHFR基因677TT纯合突变是山东地区人群子痫前期的遗传风险因子。

Objective To investigate the prevalence of methylene tetrahydrofolate reductase （MTHFR） gene C677T polymorphism and its association with preeclampsia in Shandong Hans. Methods： Polymerase chain reaction -restriction fragment length polymorphism （PCR -RFLP） analysis was conducted to examine genotypes of 42 patients with pre -eclampsia and 64 health controls. The genotype frequencies were calculated by gene counting in patients and controls to ananalyze the association of MTHFR C677T polymorphism with pre - eclampsia. Results： In case -controls, the frequencies of C/T heterozygote were 45.24 % and 62.50% ; whereas those of T/T homozygote were 40. 48% and 17.19%. The raltive risk （OR） of individuals with the T/T genotype for pre -eclampsia was 3. 276 （95% confidence interval： 1. 339 ～ 8. 02, P = 0. 008） compared with that of individuals with C/C and C/T genotype. Conclusion： The 677TT mutation of methylene tetrahydrofolate reductase gene is a risk factor associated with pre -eclampsia.