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GWAS Study

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

Fingerlin TE, Murphy E, Zhang W et al.

23583980 PubMed ID
GWAS Study Type
9065 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

FT
Fingerlin TE
ME
Murphy E
ZW
Zhang W
PA
Peljto AL
BK
Brown KK
SM
Steele MP
LJ
Loyd JE
CG
Cosgrove GP
LD
Lynch D
GS
Groshong S
CH
Collard HR
WP
Wolters PJ
BW
Bradford WZ
KK
Kossen K
SS
Seiwert SD
DB
du Bois RM
GC
Garcia CK
DM
Devine MS
GG
Gudmundsson G
IH
Isaksson HJ
KN
Kaminski N
ZY
Zhang Y
GK
Gibson KF
LL
Lancaster LH
CJ
Cogan JD
MW
Mason WR
MT
Maher TM
MP
Molyneaux PL
WA
Wells AU
MM
Moffatt MF
SM
Selman M
PA
Pardo A
KD
Kim DS
CJ
Crapo JD
MB
Make BJ
RE
Regan EA
WD
Walek DS
DJ
Daniel JJ
KY
Kamatani Y
ZD
Zelenika D
SK
Smith K
MD
McKean D
PB
Pedersen BS
TJ
Talbert J
KR
Kidd RN
MC
Markin CR
BK
Beckman KB
LM
Lathrop M
SM
Schwarz MI
SD
Schwartz DA
Chapter II

Abstract

Summary of the research findings

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.

1,161 European ancestry cases, 4,683 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

9065
Total Participants
GWAS
Study Type
Yes
Replicated
876 European ancestry cases, 1,890 European ancestry controls
Replication Participants
European
Ancestry
U.S., U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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