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GWAS Study

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

Stahl EA, Raychaudhuri S, Remmers EF et al.

20453842 PubMed ID
GWAS Study Type
41282 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SE
Stahl EA
RS
Raychaudhuri S
RE
Remmers EF
XG
Xie G
ES
Eyre S
TB
Thomson BP
LY
Li Y
KF
Kurreeman FA
ZA
Zhernakova A
HA
Hinks A
GC
Guiducci C
CR
Chen R
AL
Alfredsson L
AC
Amos CI
AK
Ardlie KG
BA
Barton A
BJ
Bowes J
BE
Brouwer E
BN
Burtt NP
CJ
Catanese JJ
CJ
Coblyn J
CM
Coenen MJ
CK
Costenbader KH
CL
Criswell LA
CJ
Crusius JB
CJ
Cui J
DB
de Bakker PI
DJ
De Jager PL
DB
Ding B
EP
Emery P
FE
Flynn E
HP
Harrison P
HL
Hocking LJ
HT
Huizinga TW
KD
Kastner DL
KX
Ke X
LA
Lee AT
LX
Liu X
MP
Martin P
MA
Morgan AW
PL
Padyukov L
PM
Posthumus MD
RT
Radstake TR
RD
Reid DM
SM
Seielstad M
SM
Seldin MF
SN
Shadick NA
SS
Steer S
TP
Tak PP
TW
Thomson W
VD
van der Helm-van Mil AH
VD
van der Horst-Bruinsma IE
VD
van der Schoot CE
VR
van Riel PL
WM
Weinblatt ME
WA
Wilson AG
WG
Wolbink GJ
WB
Wordsworth BP
WC
Wijmenga C
KE
Karlson EW
TR
Toes RE
DV
de Vries N
BA
Begovich AB
WJ
Worthington J
SK
Siminovitch KA
GP
Gregersen PK
KL
Klareskog L
PR
Plenge RM
Chapter II

Abstract

Summary of the research findings

To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid arthritis (cases) and 20,169 controls of European descent, followed by replication in an independent set of 6,768 rheumatoid arthritis cases and 8,806 controls. Of 34 SNPs selected for replication, 7 new rheumatoid arthritis risk alleles were identified at genome-wide significance (P < 5 x 10(-8)) in an analysis of all 41,282 samples. The associated SNPs are near genes of known immune function, including IL6ST, SPRED2, RBPJ, CCR6, IRF5 and PXK. We also refined associations at two established rheumatoid arthritis risk loci (IL2RA and CCL21) and confirmed the association at AFF3. These new associations bring the total number of confirmed rheumatoid arthritis risk loci to 31 among individuals of European ancestry. An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles.

5,539 European ancestry cases, 20,169 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

41282
Total Participants
GWAS
Study Type
Yes
Replicated
6,768 European ancestry cases, 8,806 European ancestry controls
Replication Participants
European
Ancestry
Canada, Sweden, U.S., U.K., Netherlands
Recruitment Country
Chapter IV

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