心房颤动基因筛查的进展及临床应用  

Advancements and clinical applications of atrial fibrillation genetic screening

作　　者：洪葵[1,2,3] 苏雨豪 HONG Kui;SU Yuhao(Department of Cardiology,The Second Affiliated Hospital of Nanchang University,Nanchang,330006,China;Department of Medical Genetic, The Second Affiliated Hospital of Nanchang University;Jiangxi Provincial Key Laboratory of Molecular Medicine)

机构地区：[1]南昌大学第二附属医院心内科,南昌330006 [2]南昌大学第二附属医院医学遗传科 [3]江西省分子医学重点实验室

出　　处：《临床心血管病杂志》2023年第11期827-830,共4页Journal of Clinical Cardiology

摘　　要：心房颤动(房颤)是一种常见的心律失常,可导致卒中和心力衰竭风险增加,部分呈现遗传易感性。目前家族性房颤患病率尚不清楚,但具有明显的家族聚集性,通常随家族中早发房颤例数的增加而升高。全基因组关联研究发现了百余个与房颤相关的基因位点,其中多数导致离子通道功能障碍和结构重构。本文就房颤基因变异研究、检测方法和临床应用作介绍。Atrial fibrillation is a common cardiac arrhythmia that can increase the risk of stroke and heart failure,and it exhibits a partial genetic susceptibility.Currently,the prevalence of familial atrial fibrillation is not clear,but it shows significant familial clustering,typically increasing with the number of early-onset atrial fibrillation cases within the family.Genome-wide association studies have identified over a hundred genetic loci associated with atrial fibrillation,with most of them leading to ion channel dysfunction and structural remodeling.This article provides an introduction to research on atrial fibrillation gene variants,detection methods,and clinical applications.

关 键 词：心房颤动 基因筛查 基因测序 

分 类 号：R541.7[医药卫生—心血管疾病]