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GWAS Study

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

Barrett JC, Lee JC, Lees CW et al.

19915572 PubMed ID
GWAS Study Type
14917 Participants
168 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

BJ
Barrett JC
LJ
Lee JC
LC
Lees CW
PN
Prescott NJ
AC
Anderson CA
PA
Phillips A
WE
Wesley E
PK
Parnell K
ZH
Zhang H
DH
Drummond H
NE
Nimmo ER
MD
Massey D
BK
Blaszczyk K
ET
Elliott T
CL
Cotterill L
DH
Dallal H
LA
Lobo AJ
MC
Mowat C
SJ
Sanderson JD
JD
Jewell DP
NW
Newman WG
EC
Edwards C
AT
Ahmad T
MJ
Mansfield JC
SJ
Satsangi J
PM
Parkes M
MC
Mathew CG
DP
Donnelly P
PL
Peltonen L
BJ
Blackwell JM
BE
Bramon E
BM
Brown MA
CJ
Casas JP
CA
Corvin A
CN
Craddock N
DP
Deloukas P
DA
Duncanson A
JJ
Jankowski J
MH
Markus HS
MC
Mathew CG
MM
McCarthy MI
PC
Palmer CN
PR
Plomin R
RA
Rautanen A
SS
Sawcer SJ
SN
Samani N
TR
Trembath RC
VA
Viswanathan AC
WN
Wood N
SC
Spencer CC
BJ
Barrett JC
BC
Bellenguez C
DD
Davison D
FC
Freeman C
SA
Strange A
DP
Donnelly P
LC
Langford C
HS
Hunt SE
ES
Edkins S
GR
Gwilliam R
BH
Blackburn H
BS
Bumpstead SJ
DS
Dronov S
GM
Gillman M
GE
Gray E
HN
Hammond N
JA
Jayakumar A
MO
McCann OT
LJ
Liddle J
PM
Perez ML
PS
Potter SC
RR
Ravindrarajah R
RM
Ricketts M
WM
Waller M
WP
Weston P
WS
Widaa S
WP
Whittaker P
DP
Deloukas P
PL
Peltonen L
MC
Mathew CG
BJ
Blackwell JM
BM
Brown MA
CA
Corvin A
MM
McCarthy MI
SC
Spencer CC
AA
Attwood AP
SJ
Stephens J
SJ
Sambrook J
OW
Ouwehand WH
MW
McArdle WL
RS
Ring SM
SD
Strachan DP
Chapter II

Abstract

Summary of the research findings

Ulcerative colitis is a common form of inflammatory bowel disease with a complex etiology. As part of the Wellcome Trust Case Control Consortium 2, we performed a genome-wide association scan for ulcerative colitis in 2,361 cases and 5,417 controls. Loci showing evidence of association at P < 1 x 10(-5) were followed up by genotyping in an independent set of 2,321 cases and 4,818 controls. We find genome-wide significant evidence of association at three new loci, each containing at least one biologically relevant candidate gene, on chromosomes 20q13 (HNF4A; P = 3.2 x 10(-17)), 16q22 (CDH1 and CDH3; P = 2.8 x 10(-8)) and 7q31 (LAMB1; P = 3.0 x 10(-8)). Of note, CDH1 has recently been associated with susceptibility to colorectal cancer, an established complication of longstanding ulcerative colitis. The new associations suggest that changes in the integrity of the intestinal epithelial barrier may contribute to the pathogenesis of ulcerative colitis.

2,361 European ancestry cases, 5,417 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

14917
Total Participants
GWAS
Study Type
Yes
Replicated
2,321 European ancestry cases, 4,818 European ancestry controls
Replication Participants
European
Ancestry
U.K.
Recruitment Country
Chapter IV

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