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GWAS Study

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.

Nalls MA, Pankratz N, Lill CM et al.

25064009 PubMed ID
GWAS Study Type
119894 Participants
466 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

NM
Nalls MA
PN
Pankratz N
LC
Lill CM
DC
Do CB
HD
Hernandez DG
SM
Saad M
DA
DeStefano AL
KE
Kara E
BJ
Bras J
SM
Sharma M
SC
Schulte C
KM
Keller MF
AS
Arepalli S
LC
Letson C
EC
Edsall C
SH
Stefansson H
LX
Liu X
PH
Pliner H
LJ
Lee JH
CR
Cheng R
IM
Ikram MA
IJ
Ioannidis JP
HG
Hadjigeorgiou GM
BJ
Bis JC
MM
Martinez M
PJ
Perlmutter JS
GA
Goate A
MK
Marder K
FB
Fiske B
SM
Sutherland M
XG
Xiromerisiou G
MR
Myers RH
CL
Clark LN
SK
Stefansson K
HJ
Hardy JA
HP
Heutink P
CH
Chen H
WN
Wood NW
HH
Houlden H
PH
Payami H
BA
Brice A
SW
Scott WK
GT
Gasser T
BL
Bertram L
EN
Eriksson N
FT
Foroud T
SA
Singleton AB
Chapter II

Abstract

Summary of the research findings

We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six loci were identified as having genome-wide significant association; these and 6 additional previously reported loci were then tested in an independent set of 5,353 cases and 5,551 controls. Of the 32 tested SNPs, 24 replicated, including 6 newly identified loci. Conditional analyses within loci showed that four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant. In total, we identified and replicated 28 independent risk variants for Parkinson's disease across 24 loci. Although the effect of each individual locus was small, risk profile analysis showed substantial cumulative risk in a comparison of the highest and lowest quintiles of genetic risk (odds ratio (OR) = 3.31, 95% confidence interval (CI) = 2.55-4.30; P = 2 × 10(-16)). We also show six risk loci associated with proximal gene expression or DNA methylation.

13,708 European ancestry cases, 95,282 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

119894
Total Participants
GWAS
Study Type
Yes
Replicated
5,353 European ancestry cases, 5,551 European ancestry controls
Replication Participants
European
Ancestry
U.S., U.K.
Recruitment Country
Chapter IV

AI-Generated Summary

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