静脉血栓栓塞症的遗传学研究有助于病因探索

Genetics research contributes to the etiology exploration of venous thromboembolism

静脉血栓栓塞症(VTE)是一种是由遗传和环境暴露相互作用引起的复杂多因素疾病,遗传因素包括凝血抑制因子基因功能丧失(LOF)、促凝因子基因功能获得(GOF)、纤溶系统基因功能异常和间接促凝的基因变异或表观遗传学改变。VTE的遗传模式包括孟德尔遗传和基于基因多态性VTE易感。对于疑似遗传相关VTE患者,如考虑为已知突变或多态性可选择针对有限变异位点的检测技术,如考虑为未知变异位点或单基因病可选择NGS,同时可利用多基因遗传风险评分(PRS)或表观遗传学生物标志物对VTE复发风险做动态监测。

Venous thromboembolism(VTE)is a common multifactorial disease that results from hypercoagulable action of genetic factors and environmental exposures.VTE associated genetic factors include anticoagulant gene loss of function(LOF),procoagulant gene gain of function(GOF),the fibrinolytic system genes dysfunction,variants and epigenetic changes that cause hypercoagulability indirectly.Some VTE follows the pattern of Mendelian inheritance;also,genetic polymorphism is an important aspect of genetic susceptibility to VTE.For patients with suspected VTE associated genetic dysfunctions,polymorphisms test should be performed to those who is supposed to have obvious known polymorphisms genetic susceptibility.In contrast,the individuals who suffer from Mendelian disease or other types of disease with unknown gene variants,NGS test should be a good choice.Further,genetic polygenic risk score(PRS)or epigenetic biomarkers are suitable for VTE recurrence risk assessment.