MTHFR的基因多态性与原因不明复发性流产的相关性分析

摘要

Objective:To study the relationship between the gene polymorphism of methylene tetrahydrofolate reductase (MTHFR) and the unexplained recurrent spontaneous abortion (URSA).Methods:83 patients with unexplained recurrent spontaneous abortion (the URSA group) and 90 normal women of reproductive age (the control group) were recruited.Fluorescence quantitative PCR was used to detect the MTHFR gene C677T,A1298C single nucleotide polymorphisms (SNP).The frequency distribution of genotype and allele was compared,and the risk of different genotypes to URSA was evaluated.Results:The distribution of MTHFR genotypes in both groups was consistent with the Hardy-Weinberg balance.There were significant differences in the frequencies of C677T genotype and alleles between the URSA group and the control group (P＜0.05).There were no significant differences in the frequencies of A1298C genotype and alleles between the two groups (P＞0.05).The frequency of homozygous genotype in the URSA group was higher than that in the control group (30.1％ vs.13.3％,x2=7.237,P=0.007).The risk of URSA in those patients with TT homozygous genotype was 3.289 times higher than that in the patients with CC homozygous genotype (OR=3.289,95％CI:1.342-8.063).Conclusions:The gene polymorphism of MTHFR C677T site is a risk factor of URSA,and the TT homozygoous genotype increases the risk of URSA.%目的:探讨原因不明复发性流产(URSA)与5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性的关系.方法:采用荧光定量聚合酶链反应(PCR)技术,对83例URSA患者(URSA组)和90例健康育龄期妇女(对照组)行MTH FR基因C667T、A 1298C位点单核苷酸多态性分析,比较2组患者基因型、等位基因频率分布情况,并评估不同基因型致URSA发生的风险.结果:2组患者MTH FR基因型分布符合Hardy-Weinberg平衡.2组患者MTHFR C677T基因型、等位基因频率分布比较差异有统计学意义(均P＜0.05);MTHFR A1298C基凶型、等位基因频率分布比较差异无统计学意义(均P＞0.05).URSA组TT纯合子出现频率高于对照组(30.1％ vs.13.3％,x2=7.237,P=0.007).TT纯合子基因型发生URSA的风险是CC纯合子基因型的3.289倍(OR=3.289,95％CI:1.342～8.063).结论:MTHFR C677T位点基因多态性与URSA的发生有关,TT纯合子基因型可增加患病风险.