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 journalArticlepeer-review

489 Scopus citations


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
Issue number6
StatePublished - Jun 2013

Bibliographical note

Funding Information:
We gratefully acknowledge the individuals who participated in the studies that contributed to this work. This research was supported by the National Heart, Lung, and Blood Institute (R01-HL095393, R01-HL097163, P01-HL092870, RC2-HL101715, U01-HL089897, U01-HL089856, U01-HL108642 and P50-HL0894932), the Veterans Administration (1I01BX001534), the Dorothy P. and Richard P. Simmons Center and InterMune.


Dive into the research topics of 'Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis'. Together they form a unique fingerprint.

Cite this