Revisão Acesso aberto Revisado por pares

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

2013; Nature Portfolio; Volume: 45; Issue: 6 Linguagem: Inglês

10.1038/ng.2609

ISSN

1546-1718

Autores

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

Tópico(s)

Medical Imaging and Pathology Studies

Resumo

Tasha Fingerlin, David Schwartz and colleagues report a genome-wide association study of fibrotic idiopathic interstitial pneumonia. Their results confirm known risk variants at MUC5B and TERT and identify several new regions associated with disease susceptibility. 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.

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