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GWAS Study

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

Draisma HHM, Pool R, Kobl M et al.

26068415 PubMed ID
GWAS Study Type
8660 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

DH
Draisma HHM
PR
Pool R
KM
Kobl M
JR
Jansen R
PA
Petersen AK
VA
Vaarhorst AAM
YI
Yet I
HT
Haller T
DA
Demirkan A
ET
Esko T
ZG
Zhu G
BS
Böhringer S
BM
Beekman M
VK
van Klinken JB
RW
Römisch-Margl W
PC
Prehn C
AJ
Adamski J
DC
de Craen AJM
VL
van Leeuwen EM
AN
Amin N
DH
Dharuri H
WH
Westra HJ
FL
Franke L
DG
de Geus EJC
HJ
Hottenga JJ
WG
Willemsen G
HA
Henders AK
MG
Montgomery GW
ND
Nyholt DR
WJ
Whitfield JB
PB
Penninx BW
ST
Spector TD
MA
Metspalu A
SP
Slagboom PE
VD
van Dijk KW
'H
't Hoen PAC
SK
Strauch K
MN
Martin NG
VO
van Ommen GB
IT
Illig T
BJ
Bell JT
MM
Mangino M
SK
Suhre K
MM
McCarthy MI
GC
Gieger C
IA
Isaacs A
VD
van Duijn CM
BD
Boomsma DI
Chapter II

Abstract

Summary of the research findings

Metabolites are small molecules involved in cellular metabolism, which can be detected in biological samples using metabolomic techniques. Here we present the results of genome-wide association and meta-analyses for variation in the blood serum levels of 129 metabolites as measured by the Biocrates metabolomic platform. In a discovery sample of 7,478 individuals of European descent, we find 4,068 genome- and metabolome-wide significant (Z-test, P < 1.09 × 10(-9)) associations between single-nucleotide polymorphisms (SNPs) and metabolites, involving 59 independent SNPs and 85 metabolites. Five of the fifty-nine independent SNPs are new for serum metabolite levels, and were followed-up for replication in an independent sample (N = 1,182). The novel SNPs are located in or near genes encoding metabolite transporter proteins or enzymes (SLC22A16, ARG1, AGPS and ACSL1) that have demonstrated biomedical or pharmaceutical importance. The further characterization of genetic influences on metabolic phenotypes is important for progress in biological and medical research.

7,478 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

8660
Total Participants
GWAS
Study Type
Yes
Replicated
1,182 European ancestry individuals
Replication Participants
European
Ancestry
Netherlands, Australia, Germany, Estonia
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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