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Title: Genome-wide association analysis identifies six new loci associated with forced vital capacity
Authors: Loth, D. W.
Artigas, M. S.
Gharib, S. A.
Wain, L. V.
Franceschini, N.
Koch, B.
Pottinger, T. D.
Smith, A. V.
Duan, Q.
Oldmeadow, C.
Lee, M. K.
Strachan, D. P.
James, A. L.
Huffman, J. E.
Vitart, V.
Ramasamy, A.
Wareham, N. J.
Kaprio, J.
Wang, X. Q.
Trochet, H.
Kähönen, M.
Flexeder, C.
Albrecht, E.
Lopez, L. M.
de Jong, K.
Thyagarajan, B.
Alves, A. C.
Enroth, S.
Omenaas, E.
Joshi, P. K.
Fall, T.
Viñuela, A.
Launer, L. J.
Loehr, L. R.
Fornage, M.
Li, G.
Wilk, J. B.
Tang, W.
Manichaikul, A.
Lahousse, L.
Harris, T. B.
North, K. E.
Rudnicka, A. R.
Hui, J.
Gu, X.
Lumley, T.
Wright, A. F.
Hastie, N. D.
Campbell, S.
Kumar, R.
Pin, I.
Scott, R. A .
Pietiläinen, K. H.
Surakka, I.
Liu, Y.
Holliday, E. G.
Schulz, H.
Heinrich, J.
Davies, G.
Vonk, J. M.
Wojczynski, M.
Pouta, A.
Johansson, A.
Wild, S. H.
Ingelsson, E.
Rivadeneira, F.
Völzke, H.
Hysi, P. G.
Eiriksdottir, G.
Morrison, A. C.
Rotter, J. I.
Gao, W.
Postma, D. S.
White, W. B.
Rich, S. S.
Hofman, A.
Aspelund, T.
Couper, D.
Smith, L. J.
Psaty, B. M.
Lohman, K.
Burchard, E. G.
Uitterlinden, A. G.
Garcia, M.
Joubert, B. R.
McArdle, W. L.
Musk, A. B.
Hansel, N.
Heckbert, S. R.
Zgaga, L.
van Meurs, J. B.
Navarro, P.
Rudan, I.
Oh, Y. M.
Redline, S.
Jarvis, D. L.
Zhao, J. H.
Rantanen, T.
O'Connor, G. T.
Ripatti, S.
Scott, R. J.
Karrasch, S.
Grallert, H.
Gaddis, N. C.
Starr, J. M.
Wijmenga, C.
Minster, R. L.
Lederer, D. J.
Pekkanen, J.
Gyllensten, U.
Campbell, H.
Morris, A. P.
Gläser, S.
Hammond, C. J.
Burkart, K. M.
Beilby, J.
Kritchevsky, S. B.
Gudnason, V.
Hancock, D. B.
Williams, O. D.
Polasek, O.
Zemunik, T.
Kolcic, I.
Petrini, M. F.
Wjst, M.
Kim, W. J.
Porteous, D. J.
Scotland, G.
Smith, B. H.
Viljanen, A.
Heliövaara, M.
Attia, J. R.
Sayers, I.
Hampel, R.
Gieger, C.
Deary, I. J.
Boezen, H. M.
Newman, A.
Jarvelin, M. R.
Wilson, J. F.
Lind, L.
Stricker, B. H .
Teumer, A.
Spector, T. D.
Melén, E.
Peters, M. J.
Lange, L. A.
Barr, R. G.
Bracke, K. R.
Verhamme, F. M.
Sung, J.
Hiemstra, P. S.
Cassano, P. A.
Sood, A.
Hayward, C.
Dupuis, J.
Hall, I. P.
Brusselle, G. G.
Tobin, M. D.
London, S. J.
First Published: 15-Jun-2014
Publisher: Nature Publishing Group
Citation: Nature Genetics, 2014, 46 (7), pp. 669-677
Abstract: Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
DOI Link: 10.1038/ng.3011
eISSN: 1546-1718
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2014, Rights Managed by Nature Publishing Group. Deposited with reference to the publisher’s open access archiving policy, available at
Description: The file associated with this record is under a 6-month embargo from publication in accordance with the publisher's self-archiving policy, available at The full text may be available in the publisher links provided above.
Appears in Collections:Published Articles, Dept. of Health Sciences

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