遗传 ›› 2020, Vol. 42 ›› Issue (9): 832-846.doi: 10.16288/j.yczz.19-381

• 综述 • 上一篇    下一篇

慢性阻塞性肺疾病全基因组关联研究进展

钱国清1,2,3   

  1. 1. 宁波大学附属宁波市第一医院内科,宁波 315010
    2. 浙江大学宁波医院呼吸科,宁波 315010
    3. 英国诺丁汉大学医学院,诺丁汉 NG7 2RD
  • 收稿日期:2020-02-25 修回日期:2020-05-29 出版日期:2020-09-20 发布日期:2020-06-19
  • 作者简介:钱国清,博士,副主任医师,研究方向:呼吸病学。E-mail: guoqing.qian@foxmail.com
  • 基金资助:
    宁波市自然科学基金项目资助编号(Q17H010001);宁波市自然科学基金项目资助编号(2017A610246)

Advances in genome-wide association study of chronic obstructive pulmonary disease

Qian Guoqing1,2,3   

  1. 1. Department of General Internal Medicine, Ningbo First Hospital, Ningbo University, Ningbo 315010, China
    2. Department of Respiratory Medicine, Ningbo Hospital of Zhejiang University, Ningbo 315010, China
    3. Shool of Medicine, University of Nottingham, Nottingham UK NG7 2RD, UK
  • Received:2020-02-25 Revised:2020-05-29 Online:2020-09-20 Published:2020-06-19
  • Supported by:
    Supported by the Natural Science Foundation of Zhejiang Province No(Q17H010001);the Natural Science Foundation of Ningbo City No(2017A610246)

摘要:

慢性阻塞性肺疾病(chronic obstructive pulmonary disease, COPD)是一种以不完全可逆的气流受限为主要特征的慢性气道炎症,是一种由遗传因素和环境因素共同作用的复杂疾病,也是世界主要致死疾病之一。近年来,随着全基因组关联研究(genome-wide association study, GWAS)的不断深入,研究者们发现了大量与肺功能或COPD相关的遗传变异或基因位点、药物靶点等。本文综述了2007年以来世界范围内针对肺功能或COPD的GWAS方面的研究工作及其进展综述,分析了可能存在的药物靶点,并探讨了COPD在全基因组关联研究中面临的挑战和困难,为深入研究COPD发病机制提供新思路。

关键词: 慢性阻塞性肺疾病, 肺功能, 全基因组关联研究, 遗传变异, 基因座, 易感基因, 致病基因

Abstract:

Chronic obstructive pulmonary disease (COPD) is characterized by irreversible airflow obstruction and chronic airway inflammation, caused by a combination of environmental and genetic factors. It is the third leading cause of death worldwide. In recent years, researchers have applied the genome-wide association study (GWAS) and identified a large number of genetic variants associated with lung functions and potential drug targets for treating COPD. In this review, we summarize the results of GWAS studies and perform a review of the literature since 2007 to highlight the progress of GWAS on COPD. We discuss the challenges, the underlying mechanisms, and the possible drug targets, thereby providing insights on the pathogenesis and potential treatment strategies for COPD.

Key words: chronic obstructive pulmonary disease, lung function, genome-wide association study, genetic variant, locus, susceptibility gene, causal gene