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Shrine, N.* ; Guyatt, A.L.* ; Erzurumluoglu, A.M.* ; Jackson, V.E.* ; Hobbs, B.D.* ; Melbourne, C.A.* ; Batini, C.* ; Fawcett, K.A.* ; Song, K.* ; Sakornsakolpat, P.* ; Li, X.* ; Boxall, R.* ; Reeve, N.F.* ; Obeidat, M.* ; Zhao, J.H.* ; Wielscher, M.* ; Weiss, S.* ; Kentistou, K.A.* ; Cook, J.P.* ; Sun, B.B.* ; Zhou, J.* ; Hui, J.* ; Karrasch, S. ; Imboden, M.* ; Harris, S.E.* ; Marten, J.* ; Enroth, S.* ; Kerr, S.M.* ; Surakka, I.* ; Vitart, V.* ; Lehtimäki, T.* ; Allen, R.J.* ; Bakke, P.S.* ; Beaty, T.H.* ; Bleecker, E.R.* ; Bossé, Y.* ; Brandsma, C.A.* ; Chen, Z.* ; Crapo, J.D.* ; Danesh, J.* ; DeMeo, D.L.* ; Dudbridge, F.* ; Ewert, R.* ; Gieger, C. ; Gulsvik, A.* ; Hansell, A.L.* ; Hao, K.* ; Hoffman, J.D.* ; Hokanson, J.E.* ; Homuth, G.* ; Joshi, P.K.* ; Joubert, P.* ; Langenberg, C.* ; Li, L.* ; Lin, K.* ; Lind, L.* ; Locantore, N.* ; Luan, J.* ; Mahajan, A.* ; Maranville, J.C.* ; Murray, A.* ; Nickle, D.C.* ; Packer, R.* ; Parker, M.M.* ; Paynton, M.L.* ; Porteous, D.J.* ; Prokopenko, D.* ; Qiao, D.* ; Rawal, R. ; Runz, H.* ; Sayers, I.* ; Sin, D.D.* ; Smith, B.H.* ; Soler Artigas, M.* ; Sparrow, D.* ; Tal-Singer, R.* ; Timmers, P.R.H.J.* ; van den Berge, M.* ; Whittaker, J.C.* ; Woodruff, P.G.* ; Yerges-Armstrong, L.M.* ; Troyanskaya, O.G.* ; Raitakari, O.T.* ; Kähönen, M.* ; Polašek, O.* ; Gyllensten, U.* ; Rudan, I.* ; Deary, I.J.* ; Probst-Hensch, N.M.* ; Schulz, H. ; James, A.L.* ; Wilson, J.F.* ; Stubbe, B.* ; Zeggini, E. ; Jarvelin, M.R.* ; Wareham, N.J.* ; Silverman, E.K.* ; Hayward, C.* ; Morris, A.P.* ; Butterworth, A.S.* ; Scott, R.A.* ; Walters, R.G.* ; Meyers, D.A.* ; Cho, M.H.* ; Strachan, D.P.* ; Hall, I.P.* ; Tobin, M.D.* ; Wain, L.V.*

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Nat. Genet. 51, 481-493 (2019)
Postprint DOI PMC
Open Access Green
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of European ancestry, we define 279 lung function signals, 139 of which are new. In combination, these variants strongly predict COPD in independent populations. Furthermore, the combined effect of these variants showed generalizability across smokers and never smokers, and across ancestral groups. We highlight biological pathways, known and potential drug targets for COPD and, in phenome-wide association studies, autoimmune-related and other pleiotropic effects of lung function-associated variants. This new genetic evidence has potential to improve future preventive and therapeutic strategies for COPD.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genome-wide Association; Loci; Gwas; Heritability; Variants; Copd
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 51, Issue: 3, Pages: 481-493 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Epidemiology II (EPI2)
Institute of Translational Genomics (ITG)