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


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 (Pmeta = 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.

SUBMITTER: Fingerlin TE 

PROVIDER: S-EPMC3677861 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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

Fingerlin Tasha E TE   Murphy Elissa E   Zhang Weiming W   Peljto Anna L AL   Brown Kevin K KK   Steele Mark P MP   Loyd James E JE   Cosgrove Gregory P GP   Lynch David D   Groshong Steve S   Collard Harold R HR   Wolters Paul J PJ   Bradford Williamson Z WZ   Kossen Karl K   Seiwert Scott D SD   du Bois Roland M RM   Garcia Christine Kim CK   Devine Megan S MS   Gudmundsson Gunnar G   Isaksson Helgi J HJ   Kaminski Naftali N   Zhang Yingze Y   Gibson Kevin F KF   Lancaster Lisa H LH   Cogan Joy D JD   Mason Wendi R WR   Maher Toby M TM   Molyneaux Philip L PL   Wells Athol U AU   Moffatt Miriam F MF   Selman Moises M   Pardo Annie A   Kim Dong Soon DS   Crapo James D JD   Make Barry J BJ   Regan Elizabeth A EA   Walek Dinesha S DS   Daniel Jerry J JJ   Kamatani Yoichiro Y   Zelenika Diana D   Smith Keith K   McKean David D   Pedersen Brent S BS   Talbert Janet J   Kidd Raven N RN   Markin Cheryl R CR   Beckman Kenneth B KB   Lathrop Mark M   Schwarz Marvin I MI   Schwartz David A DA  

Nature genetics 20130414 6


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 (Pmeta = 2.4 × 10(-8) to 1.1 × 10(-19)), including FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13)  ...[more]

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