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. Isaksson & 30 others Naftali 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

300 Citations (Scopus)

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

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Idiopathic Interstitial Pneumonias
Pulmonary Fibrosis
Genome-Wide Association Study
Cell Adhesion
DNA Repair
Genes
telomerase RNA

ASJC Scopus subject areas

  • Genetics

Cite this

Fingerlin, T. E., Murphy, E., Zhang, W., Peljto, A. L., Brown, K. K., Steele, M. P., ... 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

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

In: Nature Genetics, Vol. 45, No. 6, 06.2013, p. 613-620.

Research output: Contribution to journalArticle

Fingerlin, TE, Murphy, E, Zhang, W, Peljto, AL, Brown, KK, Steele, MP, Loyd, JE, Cosgrove, GP, Lynch, D, Groshong, S, Collard, HR, Wolters, PJ, Bradford, WZ, Kossen, K, Seiwert, SD, Du Bois, RM, Garcia, CK, Devine, MS, Gudmundsson, G, Isaksson, HJ, Kaminski, N, Zhang, Y, Gibson, KF, Lancaster, LH, Cogan, JD, Mason, WR, Maher, TM, Molyneaux, PL, Wells, AU, Moffatt, MF, Selman, M, Pardo, A, Kim, DS, Crapo, JD, Make, BJ, Regan, EA, Walek, DS, Daniel, JJ, Kamatani, Y, Zelenika, D, Smith, K, McKean, D, Pedersen, BS, Talbert, J, Kidd, RN, Markin, CR, Beckman, KB, Lathrop, M, Schwarz, MI & Schwartz, DA 2013, 'Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis', Nature Genetics, vol. 45, no. 6, pp. 613-620. https://doi.org/10.1038/ng.2609
Fingerlin TE, Murphy E, Zhang W, Peljto AL, Brown KK, Steele MP et al. Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nature Genetics. 2013 Jun;45(6):613-620. https://doi.org/10.1038/ng.2609
Fingerlin, Tasha E. ; Murphy, Elissa ; Zhang, Weiming ; Peljto, Anna L. ; Brown, Kevin K. ; Steele, Mark P. ; Loyd, James E. ; Cosgrove, Gregory P. ; Lynch, David ; Groshong, Steve ; Collard, Harold R. ; Wolters, Paul J. ; Bradford, Williamson Z. ; Kossen, Karl ; Seiwert, Scott D. ; Du Bois, Roland M. ; Garcia, Christine Kim ; Devine, Megan S. ; Gudmundsson, Gunnar ; Isaksson, Helgi J. ; Kaminski, Naftali ; Zhang, Yingze ; Gibson, Kevin F. ; Lancaster, Lisa H. ; Cogan, Joy D. ; Mason, Wendi R. ; Maher, Toby M. ; Molyneaux, Philip L. ; Wells, Athol U. ; Moffatt, Miriam F. ; Selman, Moises ; Pardo, Annie ; Kim, Dong Soon ; Crapo, James D. ; Make, Barry J. ; Regan, Elizabeth A. ; Walek, Dinesha S. ; Daniel, Jerry J. ; Kamatani, Yoichiro ; Zelenika, Diana ; Smith, Keith ; McKean, David ; Pedersen, Brent S. ; Talbert, Janet ; Kidd, Raven N. ; Markin, Cheryl R. ; Beckman, Kenneth B. ; Lathrop, Mark ; Schwarz, Marvin I. ; Schwartz, David A. / Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. In: Nature Genetics. 2013 ; Vol. 45, No. 6. pp. 613-620.
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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.",
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AU - Steele, Mark P.

AU - Loyd, James E.

AU - Cosgrove, Gregory P.

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AU - Garcia, Christine Kim

AU - Devine, Megan S.

AU - Gudmundsson, Gunnar

AU - Isaksson, Helgi J.

AU - Kaminski, Naftali

AU - Zhang, Yingze

AU - Gibson, Kevin F.

AU - Lancaster, Lisa H.

AU - Cogan, Joy D.

AU - Mason, Wendi R.

AU - Maher, Toby M.

AU - Molyneaux, Philip L.

AU - Wells, Athol U.

AU - Moffatt, Miriam F.

AU - Selman, Moises

AU - Pardo, Annie

AU - Kim, Dong Soon

AU - Crapo, James D.

AU - Make, Barry J.

AU - Regan, Elizabeth A.

AU - Walek, Dinesha S.

AU - Daniel, Jerry J.

AU - Kamatani, Yoichiro

AU - Zelenika, Diana

AU - Smith, Keith

AU - McKean, David

AU - Pedersen, Brent S.

AU - Talbert, Janet

AU - Kidd, Raven N.

AU - Markin, Cheryl R.

AU - Beckman, Kenneth B.

AU - Lathrop, Mark

AU - Schwarz, Marvin I.

AU - Schwartz, David A.

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