复发性流产风险基因的临床应用价值

Clinical application value of risk genes for recurrent abortion

复发性流产(RSA)是1%~5%育龄妇女的常见不良妊娠结局,其病因复杂,发病机制尚不明确。目前仍有约50%反复流产原因不明,RSA可能受到多种外源性和内源性因素的影响,其中遗传因素倍受关注。本文旨在探索RSA的相关风险基因,包括与血栓形成相关的F5、F2、MTFHR等基因、与免疫反应相关的HLA-G、CTLA4、IL-6等基因、与着床和胎盘形成相关的VEGFA、NOS3、MMP2等基因,以及与激素及其他相关的ESR1、ESR2、CYP1A1等基因,探讨基因多态性与RSA发生风险的关联。通过总结与RSA发生风险相关的易感基因,探索遗传因素在RAS风险预测的临床价值,有助于评估RSA的影响因素和发病机制,为建立精准多基因遗传风险评分(PRS)模型提供基础,并从遗传学的角度指导RSA高危人群的筛查及防控。

Recurrent spontaneous abortion(RSA)is a common adverse pregnancy outcome which affects 1%~5%of women of reproductive age.The etiology of RSA is complex,and the pathogenesis remains unclear,there are about 50%of RSA cases having unknown causes till now.RSA is caused by various exogenous and endogenous factors,in which genetic factors attract more attention in recent years.This review aims to explore risk genes of RSA,including thrombosis related genes such as F5,F2 and MTFHR,immune response related genes such as HLA-G,CTLA4 and IL-6,implantation and placental formation related genes such as VEGFA,NOS3 and MMP2,as well as hormone related genes such as ESR1,ESR2 and CYP1A1,and to explore association between genetic polymorphisms and risk of RSA occurrence.This study summarizes susceptible genes related to risk of RSA and explores clinical predictive values of genetic factors for risk of RSA,which contributes to assessment of influencing factors and pathogenesis of RSA,and lays foundation for subsequent establishment of precise polygenic risk scores(PRS)model.Moreover,it provides guidance for screening and prevention of RSA high-risk populations from genetic aspects.