动脉性肺动脉高压全基因组关联研究进展  

Advances in genome-wide association study of pulmonary arterial hypertension

作　　者：朱治萩 孙晓琳 陈曦[1] 安克江·安尼瓦尔 王明宇 杨苏乔[1] Zhu Zhiqiu;Sun Xiaolin;Chen Xi;Anniwaer Ankejiang;Wang Mingyu;Yang Suqiao(Department of Pulmonary and Critical Care Medicine,Beijing Chao-Yang Hospital,Capital Medical University,Beijing Institute of Respiratory Medicine,Beijing 100020,China)

机构地区：[1]首都医科大学附属北京朝阳医院呼吸与危重症医学科北京呼吸疾病研究所,北京100020

出　　处：《中华结核和呼吸杂志》2022年第8期813-818,共6页Chinese Journal of Tuberculosis and Respiratory Diseases

基　　金：国家自然科学基金(81900047);北京市医院管理中心“青苗”计划(QML20210306);首都医科大学学生科研创新项目(XSKY2021240)。

摘　　要：动脉性肺动脉高压(pulmonary arterial hypertension,PAH)是一类多种因素共同作用的复杂性疾病,包括特发性PAH、遗传性PAH和疾病相关的PAH等,由于具有高度遗传异质性,其临床特征及预后也具有较大差异。目前,PAH的具体发病机制尚不明确,疾病负担重,诊治方案仍有待探究,因此,研究PAH的遗传易感性对了解疾病的发生发展具有重要意义。随着全基因组关联研究(genome-wide association study,GWAS)的发展,发现了大量与PAH发病机制、临床表型、治疗和预后相关的遗传变异。本综述总结了近年来,国内外使用GWAS开展PAH遗传易感性相关研究的应用进展,为深入探究PAH的发生发展和个体化防治提供新思路。Pulmonary arterial hypertension(PAH)is a complex disease caused by multiple factors,including idiopathic PAH,heritable PAH,disease related PAH etc.Due to the high genetic heterogeneity,clinical characteristics and prognosis of PAH patients vary greatly.At present,the specific pathogenesis of PAH is unclear,and the diagnosis and treatment of PAH remain to be explored.Therefore,the study of genetic susceptibility to PAH is of great significance for understanding the occurrence and development of the disease.With the development of genome-wide association study(GWAS),a large number of genetic variations related to etiology,clinical manifestations,prognosis and treatment of PAH have been identified.This review summarizes the recent progress in the application of GWAS in the study of genetic susceptibility of PAH,and provides new insights for further exploration of the development and individualized management of PAH.

关 键 词：动脉性 肺动脉高压 疾病负担 复杂性疾病 诊治方案 全基因组关联研究 遗传易感性 临床表型 

分 类 号：R544.1[医药卫生—心血管疾病]