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GWAS Study

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

Chambers JC, Zhang W, Sehmi J et al.

22001757 PubMed ID
GWAS Study Type
61089 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

CJ
Chambers JC
ZW
Zhang W
SJ
Sehmi J
LX
Li X
WM
Wass MN
VD
Van der Harst P
HH
Holm H
SS
Sanna S
KM
Kavousi M
BS
Baumeister SE
CL
Coin LJ
DG
Deng G
GC
Gieger C
HN
Heard-Costa NL
HJ
Hottenga JJ
KB
Kühnel B
KV
Kumar V
LV
Lagou V
LL
Liang L
LJ
Luan J
VP
Vidal PM
ML
Mateo Leach I
OP
O'Reilly PF
PJ
Peden JF
RN
Rahmioglu N
SP
Soininen P
SE
Speliotes EK
YX
Yuan X
TG
Thorleifsson G
AB
Alizadeh BZ
AL
Atwood LD
BI
Borecki IB
BM
Brown MJ
CP
Charoen P
CF
Cucca F
DD
Das D
DG
de Geus EJ
DA
Dixon AL
DA
Döring A
EG
Ehret G
EG
Eyjolfsson GI
FM
Farrall M
FN
Forouhi NG
FN
Friedrich N
GW
Goessling W
GD
Gudbjartsson DF
HT
Harris TB
HA
Hartikainen AL
HS
Heath S
HG
Hirschfield GM
HA
Hofman A
HG
Homuth G
HE
Hyppönen E
JH
Janssen HL
JT
Johnson T
KA
Kangas AJ
KI
Kema IP
KJ
Kühn JP
LS
Lai S
LM
Lathrop M
LM
Lerch MM
LY
Li Y
LT
Liang TJ
LJ
Lin JP
LR
Loos RJ
MN
Martin NG
MM
Moffatt MF
MG
Montgomery GW
MP
Munroe PB
MK
Musunuru K
NY
Nakamura Y
OC
O'Donnell CJ
OI
Olafsson I
PB
Penninx BW
PA
Pouta A
PB
Prins BP
PI
Prokopenko I
PR
Puls R
RA
Ruokonen A
SM
Savolainen MJ
SD
Schlessinger D
SJ
Schouten JN
SU
Seedorf U
SS
Sen-Chowdhry S
SK
Siminovitch KA
SJ
Smit JH
ST
Spector TD
TW
Tan W
TT
Teslovich TM
TT
Tukiainen T
UA
Uitterlinden AG
VD
Van der Klauw MM
VR
Vasan RS
WC
Wallace C
WH
Wallaschofski H
WH
Wichmann HE
WG
Willemsen G
WP
Würtz P
XC
Xu C
YL
Yerges-Armstrong LM
AG
Abecasis GR
AK
Ahmadi KR
BD
Boomsma DI
CM
Caulfield M
CW
Cookson WO
VD
van Duijn CM
FP
Froguel P
MK
Matsuda K
MM
McCarthy MI
MC
Meisinger C
MV
Mooser V
PK
Pietiläinen KH
SG
Schumann G
SH
Snieder H
SM
Sternberg MJ
SR
Stolk RP
TH
Thomas HC
TU
Thorsteinsdottir U
UM
Uda M
WG
Waeber G
WN
Wareham NJ
WD
Waterworth DM
WH
Watkins H
WJ
Whitfield JB
WJ
Witteman JC
WB
Wolffenbuttel BH
FC
Fox CS
AM
Ala-Korpela M
SK
Stefansson K
VP
Vollenweider P
VH
Völzke H
SE
Schadt EE
SJ
Scott J
JM
Järvelin MR
EP
Elliott P
KJ
Kooner JS
Chapter II

Abstract

Summary of the research findings

Concentrations of liver enzymes in plasma are widely used as indicators of liver disease. We carried out a genome-wide association study in 61,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations (P = 10(-8) to P = 10(-190)). We used functional genomic approaches including metabonomic profiling and gene expression analyses to identify probable candidate genes at these regions. We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827). Our results provide new insight into genetic mechanisms and pathways influencing markers of liver function.

Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

61089
Total Participants
GWAS
Study Type
No
Replicated
South Asian, European
Ancestry
U.K., Finland, U.S., Australia, Iceland, Italy, Netherlands, Germany, Switzerland
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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