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Am J Respir Crit Care Med. 2019 Mar 25. doi: 10.1164/rccm.201808-1455SO. [Epub ahead of print]

Genetic Advances in COPD: Insights from COPDGene.

Author information

1
University of Colorado, Pulmonary and Critical Care, Aurora, Colorado, United States.
2
Brigham and Women's Hospital, Channing Division of Network Medicine, Boston, Massachusetts, United States.
3
University of Colorado, Biostatistics, Aurora, Colorado, United States.
4
National Jewish Medical and Research Center, Department of Medicine, Denver, Colorado, United States.
5
Harvard T.H. Chan School of Public Health, Boston, Massachusetts, United States.
6
University of Colorado Anschutz Medical Campus, Epidemiology, Aurora, Colorado, United States.
7
National Jewish Medical & Research Ctr., Denver, Colorado, United States.
8
Brigham and Women\'s Hospital, 1861, Medicine, Boston, Massachusetts, United States.
9
Brigham and Womens, Boston, Massachusetts, United States.
10
Brigham and Women's Hospital, Channing Laboratory, Boston, Massachusetts, United States.
11
Brigham and Women's Hospital, 1861, Channing Division of Network Medicine, Boston, Massachusetts, United States.
12
Brigham and Women's Hospital, 1861, Division of Pulmonary and Critical Care Medicine, Boston, Massachusetts, United States.
13
Harvard School of Public Hlth, Biostatistics, Boston, Massachusetts, United States.
14
Johns Hopkins University Bloomberg School of Public Health, 25802, Baltimore, Maryland, United States.
15
Harvard Medical School, Channing Division of Respiratory Medicine, Boston, Massachusetts, United States.
16
Brigham and Women's Hospital, Division of Pulmonary Critical Care Medicine, Boston, Massachusetts, United States ; ed.silverman@channing.harvard.edu.

Abstract

Chronic obstructive pulmonary disease (COPD) is a common and progressive disease that is influenced by both genetic and environmental factors. For many years, knowledge of the genetic basis of COPD was limited to Mendelian syndromes, such as alpha-1 antitrypsin deficiency and cutis laxa, caused by rare genetic variants. Fortunately, over the past decade, the proliferation of genome-wide association studies (GWAS), the accessibility of whole genome sequencing, and the development of novel methods for analyzing genetic variation data have led to a substantial increase in our understanding of genetic variants that play a role in COPD susceptibility and COPD-related phenotypes. COPDGene, a multicenter, longitudinal study of over 10,000 current and former cigarette smokers, has been pivotal to these breakthroughs in understanding the genetic basis of COPD. To date, over 20 genetic loci have been convincingly associated with COPD affection status, with additional loci demonstrating association with COPD-related phenotypes such as emphysema, chronic bronchitis, and hypoxemia. In this review, we discuss the contributions of the COPDGene study to the discovery of these genetic associations as well as the ongoing genetic investigations of COPD subtypes, protein biomarkers, and post-GWAS analysis.

KEYWORDS:

COPD; Epidemiology; Genetics; Population health

PMID:
30908940
DOI:
10.1164/rccm.201808-1455SO

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