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GWAS Study

Association analyses based on false discovery rate implicate new loci for coronary artery disease.

Nelson CP, Goel A, Butterworth AS et al.

28714975 PubMed ID
GWAS Study Type
340599 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

NC
Nelson CP
GA
Goel A
BA
Butterworth AS
KS
Kanoni S
WT
Webb TR
ME
Marouli E
ZL
Zeng L
NI
Ntalla I
LF
Lai FY
HJ
Hopewell JC
GO
Giannakopoulou O
JT
Jiang T
HS
Hamby SE
DA
Di Angelantonio E
AT
Assimes TL
BE
Bottinger EP
CJ
Chambers JC
CR
Clarke R
PC
Palmer CNA
CR
Cubbon RM
EP
Ellinor P
ER
Ermel R
EE
Evangelou E
FP
Franks PW
GC
Grace C
GD
Gu D
HA
Hingorani AD
HJ
Howson JMM
IE
Ingelsson E
KA
Kastrati A
KT
Kessler T
KT
Kyriakou T
LT
Lehtimäki T
LX
Lu X
LY
Lu Y
MW
März W
MR
McPherson R
MA
Metspalu A
PM
Pujades-Rodriguez M
RA
Ruusalepp A
SE
Schadt EE
SA
Schmidt AF
SM
Sweeting MJ
ZP
Zalloua PA
AK
AlGhalayini K
KB
Keavney BD
KJ
Kooner JS
LR
Loos RJF
PR
Patel RS
RM
Rutter MK
TM
Tomaszewski M
TI
Tzoulaki I
ZE
Zeggini E
EJ
Erdmann J
DG
Dedoussis G
BJ
Björkegren JLM
SH
Schunkert H
FM
Farrall M
DJ
Danesh J
SN
Samani NJ
WH
Watkins H
DP
Deloukas P
Chapter II

Abstract

Summary of the research findings

Genome-wide association studies (GWAS) in coronary artery disease (CAD) had identified 66 loci at 'genome-wide significance' (P < 5 × 10-8) at the time of this analysis, but a much larger number of putative loci at a false discovery rate (FDR) of 5% (refs. 1,2,3,4). Here we leverage an interim release of UK Biobank (UKBB) data to evaluate the validity of the FDR approach. We tested a CAD phenotype inclusive of angina (SOFT; ncases = 10,801) as well as a stricter definition without angina (HARD; ncases = 6,482) and selected cases with the former phenotype to conduct a meta-analysis using the two most recent CAD GWAS. This approach identified 13 new loci at genome-wide significance, 12 of which were on our previous list of loci meeting the 5% FDR threshold, thus providing strong support that the remaining loci identified by FDR represent genuine signals. The 304 independent variants associated at 5% FDR in this study explain 21.2% of CAD heritability and identify 243 loci that implicate pathways in blood vessel morphogenesis as well as lipid metabolism, nitric oxide signaling and inflammation.

18,467 European and unknown ancestry cases, 45,264 European and unknown ancestry controls

Chapter III

Study Statistics

Key metrics and study information

340599
Total Participants
GWAS
Study Type
Yes
Replicated
57,347 European and unknown ancestry cases, 219,521 European and unknown ancestry controls
Replication Participants
European, NR
Ancestry
Germany, U.K., Greece
Recruitment Country
Chapter IV

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