Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

Tasha E. Fingerlin, Elissa Murphy, Weiming Zhang, Anna L. Peljto, Kevin K. Brown, Mark P. Steele, James E. Loyd, Gregory P. Cosgrove, David Lynch, Steve Groshong, Harold R. Collard, Paul J. Wolters, Williamson Z. Bradford, Karl Kossen, Scott D. Seiwert, Roland M. Du Bois, Christine Kim Garcia, Megan S. Devine, Gunnar Gudmundsson, Helgi J. IsakssonNaftali Kaminski, Yingze Zhang, Kevin F. Gibson, Lisa H. Lancaster, Joy D. Cogan, Wendi R. Mason, Toby M. Maher, Philip L. Molyneaux, Athol U. Wells, Miriam F. Moffatt, Moises Selman, Annie Pardo, Dong Soon Kim, James D. Crapo, Barry J. Make, Elizabeth A. Regan, Dinesha S. Walek, Jerry J. Daniel, Yoichiro Kamatani, Diana Zelenika, Keith Smith, David McKean, Brent S. Pedersen, Janet Talbert, Raven N. Kidd, Cheryl R. Markin, Kenneth B. Beckman, Mark Lathrop, Marvin I. Schwarz, David A. Schwartz

Research output: Contribution to journalArticle

348 Scopus citations

Abstract

We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 region near TERC, and we identified seven newly associated loci (P meta = 2.4 × 10-8 to 1.1 × 10-19), including FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13) and chromosomal regions 7q22 and 15q14-15. Our results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs.

Original languageEnglish (US)
Pages (from-to)613-620
Number of pages8
JournalNature genetics
Volume45
Issue number6
DOIs
StatePublished - Jun 2013

ASJC Scopus subject areas

  • Genetics

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  • Cite this

    Fingerlin, T. E., Murphy, E., Zhang, W., Peljto, A. L., Brown, K. K., Steele, M. P., Loyd, J. E., Cosgrove, G. P., Lynch, D., Groshong, S., Collard, H. R., Wolters, P. J., Bradford, W. Z., Kossen, K., Seiwert, S. D., Du Bois, R. M., Garcia, C. K., Devine, M. S., Gudmundsson, G., ... Schwartz, D. A. (2013). Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nature genetics, 45(6), 613-620. https://doi.org/10.1038/ng.2609