心源性卒中的遗传学研究进展  

Research progress on genetics in cardioembolic stroke

作　　者：唐恒磊 郑树涛 李友 钟望涛 Henglei Tang;Shutao Zheng;You Li;Wangtao Zhong(Department of Neurology,Affiliated Hospital of Guangdong Medical University,Zhanjiang 524002,China;Institute of Neurology,Affiliated Hospital of Guangdong Medical University,Zhanjiang 524002,China;Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases,Zhanjiang 524002,China)

机构地区：[1]广东医科大学附属医院神经内科,湛江524002 [2]广东医科大学附属医院神经病学研究所,湛江524002 [3]广东省衰老相关心脑疾病重点实验室,湛江524002

出　　处：《遗传》2024年第5期373-386,共14页Hereditas（Beijing)

基　　金：国家自然科学基金项目(编号:81571157);广东省自然科学基金面上项目(编号:2023A1515012481)资助。

摘　　要：心源性卒中是缺血性脑卒中的重要病因之一,表现出病情重、预后差和复发率高的特点。在遗传学研究中已经有相当多与心源性卒中相关的基因被鉴定,这些易感基因在疾病风险预测及危险因素评估的潜力也陆续被发掘。本文从全基因组关联研究、拷贝数变异研究、全基因组测序研究等方面综述了心源性卒中遗传学研究的相关进展,并介绍了其遗传数据集在多基因风险评分、孟德尔随机化的应用,旨在为将来深入研究心源性卒中的遗传发生机制提供借鉴和参考。Cardioembolic stroke,characterized by severe illness,poor prognosis,and high recurrence rate,is one of the important causes of ischemic stroke.In the field of genetic research,numerous genes associated with cardioembolic stroke have been identified,and their potential in predicting disease risk and evaluating risk factors has been progressively explored.Here,we provide an overview of the latest advancements in genetics for cardioembolic stroke,including genome-wide association studies,copy number variation studies,whole-genome sequencing studies.Furthermore,we also summarize the application of genetic datasets in polygenic risk score and Mendelian randomization.The aim of this overview is to provide insights and references from multiple perspectives for future investigations on the genetic information for cardioembolic stroke.

关 键 词：脑卒中 心源性卒中 全基因组关联研究 多基因风险评分 孟德尔随机化 

分 类 号：R743.3[医药卫生—神经病学与精神病学]