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

Title: Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
Authors: 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
Item Type: Journal Article
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.
Issue Date: 1-Jun-2013
Date of Acceptance: 18-Mar-2013
URI: http://hdl.handle.net/10044/1/63034
DOI: https://dx.doi.org/10.1038/ng.2609
ISSN: 1061-4036
Publisher: Nature Publishing Group
Start Page: 613
End Page: 624
Journal / Book Title: Nature Genetics
Volume: 45
Issue: 6
Copyright Statement: © 2013 Nature America, Inc. All rights reserved. The final publication is available via https://dx.doi.org/10.1038/ng.2609
Keywords: Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
SURFACTANT PROTEIN-C
RIGHT-VENTRICULAR DYSPLASIA/CARDIOMYOPATHY
PALMOPLANTAR KERATODERMA
INTERSTITIAL PNEUMONIA
GENOTYPE IMPUTATION
DESMOPLAKIN CAUSES
SIGNALING PATHWAY
ABCA3 MUTATIONS
CELL-ADHESION
HAIR SYNDROME
Case-Control Studies
Chromosomes, Human
Gene Expression
Gene Frequency
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Idiopathic Pulmonary Fibrosis
Lung
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
11 Medical And Health Sciences
06 Biological Sciences
Developmental Biology
Publication Status: Published
Online Publication Date: 2013-04-14
Appears in Collections:National Heart and Lung Institute
Faculty of Medicine



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