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肺动脉高压遗传修饰因素的研究进展 被引量：2

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摘要 肺动脉高压（pulmonary arterial hypertension,PAH）是一类以肺动脉压力进行性升高、肺血管阻力逐渐增加为特征的肺血管疾病,最终导致右心衰竭和死亡.遗传与该疾病关系密切,目前已经发现7个PAH致病基因.但PAH致病基因外显率不全、表现度不一,提示遗传修饰因素参与了疾病的发生和发展的调控.深入理解PAH遗传修饰因素,不仅有助于阐明疾病的遗传和病理机制,还可能为疾病治疗提示新的靶点.本文主要概述了当前PAH遗传学范畴内修饰因素的最新研究结果,并对主要遗传修饰因素按其所在通路进行了归纳总结.
作者 赵林 袁安慧 王晓建 荆志成 余再新
机构地区 中南大学湘雅医院心血管内科 中国医学科学院北京协和医学院国家心血管病中心阜外医院血栓性疾病诊治中心
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2016年第9期817-820,共4页 Chinese Journal of Cardiology
基金 国家自然科学基金（81320108005,81570050） 北京市自然科学基金（7141009）
关键词 遗传修饰 肺动脉高压 hypertension 肺血管疾病 ARTERIAL 致病基因 肺动脉压力 肺血管阻力
分类号 R544.1 [医药卫生—心血管疾病]
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参考文献37

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二级参考文献23

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中华心血管病杂志
2016年 第9期

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