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

We performed a genome-wide association study in non-Hispanic white subjects with fibrotic idiopathic interstitial pneumonias (N=1616) and controls (N=4683); replication was assessed in 876 cases and 1890 controls. We confirmed association with TERT and MUC5B on chromosomes 5p15 and 11p15, respective...

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Detalles Bibliográficos
Autores principales: 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, Ravin N., Markin, Cheryl R., Beckman, Kenneth B., Lathrop, Mark, Schwarz, Marvin I., Schwartz, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677861/
https://www.ncbi.nlm.nih.gov/pubmed/23583980
http://dx.doi.org/10.1038/ng.2609
Descripción
Sumario:We performed a genome-wide association study in non-Hispanic white subjects with fibrotic idiopathic interstitial pneumonias (N=1616) and controls (N=4683); replication was assessed in 876 cases and 1890 controls. We confirmed association with TERT and MUC5B on chromosomes 5p15 and 11p15, respectively, the chromosome 3q26 region near TERC, and identified 7 novel loci (P(Meta) = 2.4×10(−8) to P(Meta) = 1.1×10(−19)). The novel loci include FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13), and chromosomal regions 7q22 and 15q14-15. Our results demonstrate that genes involved in host defense, cell-cell adhesion, and DNA repair contribute to the risk of fibrotic IIP.

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