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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
Brigham & Womens Hosp, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA;Mahidol Univ, Dept Med, Fac Med, Siriraj Hosp, Bangkok, Thailand.
Brigham & Womens Hosp, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA;Massachusetts Gen Hosp, Dept Neurol, Genet & Aging Res Unit, Boston, MA 02114 USA.ORCID iD: 0000-0002-1844-5652
Inst Univ Cardiol & Pneumol Quebec, Quebec City, PQ, Canada.
Univ Leicester, Genet Epidemiol Grp, Dept Hlth Sci, Leicester, Leics, England.
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2019 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 51, no 3, p. 494-505Article in journal (Refereed) Published
Abstract [en]

Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. We identified 82 loci associated with P < 5 x 10-8; 47 of these were previously described in association with either COPD or population-based measures of lung function. Of the remaining 35 new loci, 13 were associated with lung function in 79,055 individuals from the SpiroMeta consortium. Using gene expression and regulation data, we identified functional enrichment of COPD risk loci in lung tissue, smooth muscle, and several lung cell types. We found 14 COPD loci shared with either asthma or pulmonary fibrosis. COPD genetic risk loci clustered into groups based on associations with quantitative imaging features and comorbidities. Our analyses provide further support for the genetic susceptibility and heterogeneity of COPD.

Place, publisher, year, edition, pages
2019. Vol. 51, no 3, p. 494-505
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Respiratory Medicine and Allergy Medical Genetics
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URN: urn:nbn:se:uu:diva-379346DOI: 10.1038/s41588-018-0342-2ISI: 000459947200017PubMedID: 30804561OAI: oai:DiVA.org:uu-379346DiVA, id: diva2:1296404
Available from: 2019-03-15 Created: 2019-03-15 Last updated: 2019-03-15Bibliographically approved

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Enroth, StefanLind, LarsGyllensten, Ulf B.

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