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A genome-wide association study of asthma-COPD overlap syndrome (ACOS)

Catherine John, Anna L Guyatt, Nick Shrine, Thorunn Olafsdottir, Jiangyuan Liu, Lystra Hayden, Su H Chu, Jukka Koskela, Jian'An Luan, Xingnan Li, Natalie Terzikhan, Hanfei Xu, Traci M Bartz, Hans Petersen, Shuguang Leng, Gudmar Thorleifsson, Deborah A Meyers, Eugene R Bleecker, Lori C Sakoda, Carlos Iribarren, Yohannes Tesfaigzi, Sina A Gharib, Josee Dupuis, Lies Lahousse, Victor E Ortega, Kari Stefansson, Ian Sayers, Ian P Hall, Claudia Langenberg, Samuli Ripatti, Tarja Laitinen, Ann C Wu, Jessica Lasky-Su, Caroline Hayward, Ben Brumpton, Arnulf Langhammer, Ingileif Jonsdottir, Michael H Cho, Louise V Wain, Martin D Tobin
European Respiratory Journal 2020 56: 4919; DOI: 10.1183/13993003.congress-2020.4919
Catherine John
1University of Leicester, Leicester, United Kingdom
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  • For correspondence: cj153@leicester.ac.uk
Anna L Guyatt
1University of Leicester, Leicester, United Kingdom
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Nick Shrine
1University of Leicester, Leicester, United Kingdom
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Thorunn Olafsdottir
2deCODE genetics/Amgen and University of Iceland, Reykjavik, Iceland
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Jiangyuan Liu
3Brigham and Women's Hospital and Harvard Medical School, Boston, United States of America
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Lystra Hayden
3Brigham and Women's Hospital and Harvard Medical School, Boston, United States of America
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Su H Chu
3Brigham and Women's Hospital and Harvard Medical School, Boston, United States of America
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Jukka Koskela
4Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
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Jian'An Luan
5MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom
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Xingnan Li
6University of Arizona, Tucson, United States of America
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Natalie Terzikhan
7Erasmus Medical Center, Rotterdam, Netherlands
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Hanfei Xu
8Boston University School of Public Health, Boston, United States of America
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Traci M Bartz
9University of Washington, Seattle, United States of America
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Hans Petersen
10Lovelace Respiratory Research Institute, Albuquerque, United States of America
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Shuguang Leng
10Lovelace Respiratory Research Institute, Albuquerque, United States of America
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Gudmar Thorleifsson
11deCODE genetics/Amgen and University of Iceland, Reyjavik, Iceland
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Deborah A Meyers
6University of Arizona, Tucson, United States of America
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Eugene R Bleecker
6University of Arizona, Tucson, United States of America
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Lori C Sakoda
12Division of Research, Kaiser Permanente of Northern California, Oakland, United States of America
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Carlos Iribarren
12Division of Research, Kaiser Permanente of Northern California, Oakland, United States of America
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Yohannes Tesfaigzi
3Brigham and Women's Hospital and Harvard Medical School, Boston, United States of America
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Sina A Gharib
9University of Washington, Seattle, United States of America
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Josee Dupuis
8Boston University School of Public Health, Boston, United States of America
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Lies Lahousse
7Erasmus Medical Center, Rotterdam, Netherlands
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Victor E Ortega
13Wake Forest School of Medicine, Winston-Salem, United States of America
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Kari Stefansson
2deCODE genetics/Amgen and University of Iceland, Reykjavik, Iceland
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Ian Sayers
14University of Nottingham and Nottingham NIHR Biomedical Research Centre, Nottingham, United Kingdom
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Ian P Hall
14University of Nottingham and Nottingham NIHR Biomedical Research Centre, Nottingham, United Kingdom
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Claudia Langenberg
5MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom
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Samuli Ripatti
4Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland
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Tarja Laitinen
15Turku University Hospital and University of Turku, Turku, Finland
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Ann C Wu
16Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, United States of America
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Jessica Lasky-Su
3Brigham and Women's Hospital and Harvard Medical School, Boston, United States of America
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Caroline Hayward
17MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburg, United Kingdom
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Ben Brumpton
18Norwegian University of Science and Technology (NTNU), Levanger, Norway
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Arnulf Langhammer
18Norwegian University of Science and Technology (NTNU), Levanger, Norway
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Ingileif Jonsdottir
2deCODE genetics/Amgen and University of Iceland, Reykjavik, Iceland
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Michael H Cho
3Brigham and Women's Hospital and Harvard Medical School, Boston, United States of America
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Louise V Wain
19University of Leicester and Leicester NIHR Biomedical Research Centre, Leicester, United Kingdom
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Martin D Tobin
19University of Leicester and Leicester NIHR Biomedical Research Centre, Leicester, United Kingdom
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Abstract

Individuals with characteristics of both asthma and COPD (asthma-COPD overlap syndrome, ACOS) experience significantly worse outcomes than those with asthma or COPD alone. Despite hundreds of genetic associations with asthma, COPD and lung function, no genetic variants have specifically been associated with ACOS. We hypothesized that there are genetic determinants of ACOS and sought to identify these in a genome-wide association study.

We defined ACOS based on self-reported doctor-diagnosed asthma and spirometric GOLD2+ airflow limitation. We tested 7693381 genetic variants for association with ACOS in 8068 cases and 40360 healthy controls from UK Biobank (stage 1). We identified signals where P<5x10-6 in this analysis, and where P<0.01 in two sensitivity analyses in UK Biobank using (i) controls with asthma but no COPD and (ii) controls with COPD but no asthma. For these signals, we undertook a meta-analysis of the UK Biobank results and results from fifteen independent cohorts with an additional 4301 cases and 48609 controls (stage 2). All cases and controls were of European ancestry.

Thirty-one genetic variants met criteria for inclusion in stage 2. Of these, eight were associated at genome-wide significance (P<5x10-8) and showed stronger evidence of association in the stage 2 meta-analysis than in UK Biobank alone, including signals near HLA-DQB1, C5orf56, GLB1, FAM105A, PHB, TSLP and IL17RD, and an intergenic signal on chromosome 5 not previously associated with asthma, COPD or lung function.

Whilst our results suggest that many genetic variants associated with ACOS are shared with asthma and/or COPD, we identify a new, distinct signal that may implicate cellular pathways characteristic of ACOS.

  • COPD
  • Asthma
  • Genetics

Footnotes

Cite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 4919.

This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.

This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).

  • Copyright ©the authors 2020
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A genome-wide association study of asthma-COPD overlap syndrome (ACOS)
Catherine John, Anna L Guyatt, Nick Shrine, Thorunn Olafsdottir, Jiangyuan Liu, Lystra Hayden, Su H Chu, Jukka Koskela, Jian'An Luan, Xingnan Li, Natalie Terzikhan, Hanfei Xu, Traci M Bartz, Hans Petersen, Shuguang Leng, Gudmar Thorleifsson, Deborah A Meyers, Eugene R Bleecker, Lori C Sakoda, Carlos Iribarren, Yohannes Tesfaigzi, Sina A Gharib, Josee Dupuis, Lies Lahousse, Victor E Ortega, Kari Stefansson, Ian Sayers, Ian P Hall, Claudia Langenberg, Samuli Ripatti, Tarja Laitinen, Ann C Wu, Jessica Lasky-Su, Caroline Hayward, Ben Brumpton, Arnulf Langhammer, Ingileif Jonsdottir, Michael H Cho, Louise V Wain, Martin D Tobin
European Respiratory Journal Sep 2020, 56 (suppl 64) 4919; DOI: 10.1183/13993003.congress-2020.4919

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A genome-wide association study of asthma-COPD overlap syndrome (ACOS)
Catherine John, Anna L Guyatt, Nick Shrine, Thorunn Olafsdottir, Jiangyuan Liu, Lystra Hayden, Su H Chu, Jukka Koskela, Jian'An Luan, Xingnan Li, Natalie Terzikhan, Hanfei Xu, Traci M Bartz, Hans Petersen, Shuguang Leng, Gudmar Thorleifsson, Deborah A Meyers, Eugene R Bleecker, Lori C Sakoda, Carlos Iribarren, Yohannes Tesfaigzi, Sina A Gharib, Josee Dupuis, Lies Lahousse, Victor E Ortega, Kari Stefansson, Ian Sayers, Ian P Hall, Claudia Langenberg, Samuli Ripatti, Tarja Laitinen, Ann C Wu, Jessica Lasky-Su, Caroline Hayward, Ben Brumpton, Arnulf Langhammer, Ingileif Jonsdottir, Michael H Cho, Louise V Wain, Martin D Tobin
European Respiratory Journal Sep 2020, 56 (suppl 64) 4919; DOI: 10.1183/13993003.congress-2020.4919
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