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Genetic risk factors for the development of pulmonary disease identified by genome-wide association

Hall, Robert; Hall, Ian P.; Sayers, Ian


Robert Hall

Professor of Molecular Medicine


Chronic respiratory diseases are a major cause of morbidity and mortality. Asthma and chronic obstructive pulmonary disease (COPD) combined affect over 500 million people worldwide. While environmental factors are important in disease progression, asthma and COPD have long been known to be heritable with genetic components playing an important role in the risk of developing disease. Identification of genetic variation contributing to disease progression is important for a number of reasons including identification of risk alleles, understanding underlying disease mechanisms and development of novel therapies. Genome?wide association studies (GWAS) have been successful in identifying many loci associated with lung function, COPD and asthma. In recent years, meta?analyses and improved imputation have facilitated the growth of GWAS in terms of numbers of subjects and the number of single nucleotide polymorphisms (SNP) that can be interrogated. As a consequence, there has been a significant increase in the number of signals associated with asthma, COPD and lung function. SNP that have shown association with lung function reassuringly show a significant overlap with SNP associated with COPD giving a glimpse at pathways that may be involved in COPD mechanisms including genes in, for example, developmental pathways. In asthma, association signals are often in or near genes involved in both adaptive and innate immune response pathways, epithelial cell homeostasis and airway structural changes. The challenges now are translating these genetic signals into a new understanding of lung biology, understanding how variants impact health and disease and how they may provide opportunities for therapeutic intervention.


Hall, R., Hall, I. P., & Sayers, I. (2018). Genetic risk factors for the development of pulmonary disease identified by genome-wide association. Respirology, 24(3), 204-214.

Journal Article Type Article
Acceptance Date Sep 20, 2018
Online Publication Date Nov 13, 2018
Publication Date Nov 13, 2018
Deposit Date Nov 22, 2018
Publicly Available Date Nov 22, 2018
Journal Respirology
Print ISSN 1323-7799
Electronic ISSN 1440-1843
Publisher Wiley
Peer Reviewed Peer Reviewed
Volume 24
Issue 3
Pages 204-214
Public URL
Publisher URL


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