Genetics and Genomics

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Section on Genetics and Genomics

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Publication Spotlight

Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts

Author: Michael H. Cho, MD, Former Executive Committee Co-chair

Description: In this manuscript, we develop a polygenic risk score using genome-wide association study summary statistics of lung function from more than 400 000 participants from the UK Biobank and SpiroMeta, and demonstrate that it can be used to predict the diagnosis of COPD in nine population-based and case-control cohorts of multiple ethnicities. The polygenic risk score was associated with COPD in European (odds ratio [OR] per SD 1·81 [95% CI 1·74-1·88] and non-European (1·42 [1·34-1·51]) populations. Compared with the first decile, the tenth decile of the polygenic risk score was associated with COPD, with an OR of 7·99 (6·56-9·72) in European ancestry and 4·83 (3·45-6·77) in non-European ancestry cohorts. This score uses more variants and larger sample sizes than previous studies and has been tested in a greater number of validation cohorts. As such, we show this new score is superior to previously described genetic risk scores and when combined with clinical risk factors (ie, age, sex, and smoking pack-years), shows improved prediction for COPD compared with a model comprising clinical risk factors alone (AUC 0·80 [0·79-0·81] vs 0·76 [0·75-0·76]). The score was also associated with CT imaging phenotypes and patterns of reduced lung growth that could predispose individuals to COPD. These findings could have important implications for understanding the mechanisms underlying COPD and provide future opportunities for prevention and early intervention, as genomics becomes more widely adopted in health care.

Victor E. Ortega, MD, PhD, ATSF

Section Chair
Victor E. Ortega, MD, PhD, ATSF


Chair: Victor E. Ortega, MD, PhD, ATSF

Co-Chair: Co-Chair - Ann Chen Wu, MD, MPH

Welcome to the ATS Section on Genetics and Genomics website! Our Section welcomes all members of the ATS, regardless of Assembly affiliation, who are interested in genetics, genomics, and other “omics” technologies (proteomics, metabolomics, metagenomics, etc.) as they relate to the many diseases encompassing the fields of respiratory, critical care, and sleep medicine. Over the past two years, our Section has grown to over 1,000 members making us one of the largest society-based interest groups for genetic and genomic investigators focused on respiratory, critical care, and sleep medicine research. The Section on Genetics and Genomics resides within Allergy, Inflammation, and Immunology, but our current members belong to numerous ATS assemblies reflecting the diverse application of omics approaches across our membership.

Genetics and genomics are at the forefront of scientific research and medical practice into the 21st century, and the number of investigators focusing on these technologies is rapidly expanding. Although the diseases encompassed by the ATS are diverse, omics-based approaches have common, overlapping themes that are beneficial to informing research and the application of cutting-edge technologies. As outlined in our mission statement, we aim to facilitate the exchange of ideas across omics researchers while increasing the knowledge and appreciation of genomics research across the broader ATS community. Section members have impacted the exchange of ideas in ATS through the programming of scientific events including quarterly journal clubs and webinars, workshops, scientific symposia, and the annual curation of over 200 abstracts submitted for the international conference. In addition, members have led and contributed to published research statements and workshops though the ATS, ERS, and NHLBI on lung precision medicine research, high-throughput sequencing, respiratory disease-related healthcare disparities, and the management of severe asthma resulting in national and international impact. 

We encourage all clinicians, scientists, post-doctoral fellows, and trainees interested in genetics and genomics research to learn more about our Section. We hope to increase the understanding of omics technologies and their applications to enhance the ability of our scientific community to address impactful research questions which could lead to precision approaches for patient care.

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