Genome-wide association analysis identifies six new loci associated with forced vital capacity

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.

Genome-wide association analysis identifies six new loci associated with forced vital capacity

journal contribution

posted on 2015-10-22, 13:39 authored by D. W. Loth, M. S. Artigas, S. A. Gharib, L. V. Wain, N. Franceschini, B. Koch, T. D. Pottinger, A. V. Smith, Q. Duan, C. Oldmeadow, M. K. Lee, D. P. Strachan, A. L. James, J. E. Huffman, V. Vitart, A. Ramasamy, N. J. Wareham, J. Kaprio, X. Q. Wang, H. Trochet, M. Kähönen, C. Flexeder, E. Albrecht, L. M. Lopez, K. de Jong, B. Thyagarajan, A. C. Alves, S. Enroth, E. Omenaas, P. K. Joshi, T. Fall, A. Viñuela, L. J. Launer, L. R. Loehr, M. Fornage, G. Li, J. B. Wilk, W. Tang, A. Manichaikul, L. Lahousse, T. B. Harris, K. E. North, A. R. Rudnicka, J. Hui, X. Gu, T. Lumley, A. F. Wright, N. D. Hastie, S. Campbell, R. Kumar, I. Pin, R. A . Scott, K. H. Pietiläinen, I. Surakka, Y. Liu, E. G. Holliday, H. Schulz, J. Heinrich, G. Davies, J. M. Vonk, M. Wojczynski, A. Pouta, A. Johansson, S. H. Wild, E. Ingelsson, F. Rivadeneira, H. Völzke, P. G. Hysi, G. Eiriksdottir, A. C. Morrison, J. I. Rotter, W. Gao, D. S. Postma, W. B. White, S. S. Rich, A. Hofman, T. Aspelund, D. Couper, L. J. Smith, B. M. Psaty, K. Lohman, E. G. Burchard, A. G. Uitterlinden, M. Garcia, B. R. Joubert, W. L. McArdle, A. B. Musk, N. Hansel, S. R. Heckbert, L. Zgaga, J. B. van Meurs, P. Navarro, I. Rudan, Y. M. Oh, S. Redline, D. L. Jarvis, J. H. Zhao, T. Rantanen, G. T. O'Connor, S. Ripatti, R. J. Scott, S. Karrasch, H. Grallert, N. C. Gaddis, J. M. Starr, C. Wijmenga, R. L. Minster, D. J. Lederer, J. Pekkanen, U. Gyllensten, H. Campbell, A. P. Morris, S. Gläser, C. J. Hammond, K. M. Burkart, J. Beilby, S. B. Kritchevsky, V. Gudnason, D. B. Hancock, O. D. Williams, O. Polasek, T. Zemunik, I. Kolcic, M. F. Petrini, M. Wjst, W. J. Kim, D. J. Porteous, G. Scotland, B. H. Smith, A. Viljanen, M. Heliövaara, J. R. Attia, I. Sayers, R. Hampel, C. Gieger, I. J. Deary, H. M. Boezen, A. Newman, M. R. Jarvelin, J. F. Wilson, L. Lind, B. H . Stricker, A. Teumer, T. D. Spector, E. Melén, M. J. Peters, L. A. Lange, R. G. Barr, K. R. Bracke, F. M. Verhamme, J. Sung, P. S. Hiemstra, P. A. Cassano, A. Sood, C. Hayward, J. Dupuis, I. P. Hall, G. G. Brusselle, M. D. Tobin, S. J. London

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.

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Citation

Nature Genetics, 2014, 46 (7), pp. 669-677

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/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/School of Medicine/Department of Health Sciences

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AM (Accepted Manuscript)

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Nature Genetics

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Nature Publishing Group

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1546-1718

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2014-05-22

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2014

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2015-10-23

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https://doi.org/10.1038/ng.3011

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http://www.nature.com/ng/journal/v46/n7/full/ng.3011.html

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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 http://www.nature.com/authors/policies/license.html. The full text may be available in the publisher links provided above.

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en

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https://leicester.figshare.com/account/articles/10140977

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Cohort Studies Databases, Genetic Follow-Up Studies Forced Expiratory Volume Genetic Loci Genetic Predisposition to Disease Genome, Human Genome-Wide Association Study Humans Lung Diseases Meta-Analysis as Topic Polymorphism, Single Nucleotide Prognosis Quantitative Trait Loci Respiratory Function Tests Spirometry Vital Capacity

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Genome-wide association analysis identifies six new loci associated with forced vital capacity

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