MTHFR和PAI-1基因在不良妊娠人群中的多态性分布及风险评估

Distribution and Risk Assessment of MTHFR and PAI-1 Gene Polymorphisms in the Population with Adverse Pregnancy

本研究对146例妊娠不良事件人群(研究组)和98例正常生育人群(对照组)进行MTHFR 677C>T和PAI-1 4G/5G基因分型,探讨基因多态性分布,并对研究组人群进行风险评估。研究显示,MTHFR 677C>T等位突变率为43.03%,PAI-1 4G/5G等位基因突变率为54.31%,且研究组MTHFR 677T等位基因突变率明显高于对照组(44.52%vs 40.80%,P<0.05),4G等位基因突变频率亦高于对照组(56.51%vs 51.02%,P<0.05)。研究组人群中,11例(7.53%)和52例(35.62%)为极高度和高度风险人群。MTHFR基因和PAI-1基因多态性对不良妊娠的发生有重要影响,携带突变等位基因可影响叶酸疗效,从而增加发生不良妊娠的风险。

The genotypes of MTHFR 677C〉T and PAl-1 4G/5G were detected in 146 cases of women with adverse pregnancy outcomes （the study group） and 98 cases of women with normal pregnancy （the control group） to explore the distribution of MTHFR and PAI-1 gene polymorphisms in population and to evaluate the risk in the study group. The study showed that the mutation rate was 43.03% for MTHFR 677C〉T and 54.31% for PAI-1 4G/5G, respectively, and the mutation rates of MTHFR 677T allele and PAl-1 4G allele in the study group was significantly higher than those of the control group （44.52% vs 40.80%, 56.51% vs 51.02%, P〈0.05）. In the study group, 11 cases （7.53%） and 52 cases （35.62%） were at extremely high and high risk, respectively. There are important effects of MTHFR and PAl-1 gene poly- morphisms on adverse pregnancy. The mutant allele carriers may affect the efficacy of folic acid which in- creases the risk of adverse pregnancy.