serval:BIB_DA35C65A8356
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
10.1038/srep45040
000400432700001
28452372
Gorski
M.
author
van der Most
P.J.
author
Teumer
A.
author
Chu
A.Y.
author
Li
M.
author
Mijatovic
V.
author
Nolte
I.M.
author
Cocca
M.
author
Taliun
D.
author
Gomez
F.
author
Li
Y.
author
Tayo
B.
author
Tin
A.
author
Feitosa
M.F.
author
Aspelund
T.
author
Attia
J.
author
Biffar
R.
author
Bochud
M.
author
Boerwinkle
E.
author
Borecki
I.
author
Bottinger
E.P.
author
Chen
M.H.
author
Chouraki
V.
author
Ciullo
M.
author
Coresh
J.
author
Cornelis
M.C.
author
Curhan
G.C.
author
d'Adamo
A.P.
author
Dehghan
A.
author
Dengler
L.
author
Ding
J.
author
Eiriksdottir
G.
author
Endlich
K.
author
Enroth
S.
author
Esko
T.
author
Franco
O.H.
author
Gasparini
P.
author
Gieger
C.
author
Girotto
G.
author
Gottesman
O.
author
Gudnason
V.
author
Gyllensten
U.
author
Hancock
S.J.
author
Harris
T.B.
author
Helmer
C.
author
Höllerer
S.
author
Hofer
E.
author
Hofman
A.
author
Holliday
E.G.
author
Homuth
G.
author
Hu
F.B.
author
Huth
C.
author
Hutri-Kähönen
N.
author
Hwang
S.J.
author
Imboden
M.
author
Johansson
Å.
author
Kähönen
M.
author
König
W.
author
Kramer
H.
author
Krämer
B.K.
author
Kumar
A.
author
Kutalik
Z.
author
Lambert
J.C.
author
Launer
L.J.
author
Lehtimäki
T.
author
de Borst
M.
author
Navis
G.
author
Swertz
M.
author
Liu
Y.
author
Lohman
K.
author
Loos
RJF
author
Lu
Y.
author
Lyytikäinen
L.P.
author
McEvoy
M.A.
author
Meisinger
C.
author
Meitinger
T.
author
Metspalu
A.
author
Metzger
M.
author
Mihailov
E.
author
Mitchell
P.
author
Nauck
M.
author
Oldehinkel
A.J.
author
Olden
M.
author
Wjh Penninx
B.
author
Pistis
G.
author
Pramstaller
P.P.
author
Probst-Hensch
N.
author
Raitakari
O.T.
author
Rettig
R.
author
Ridker
P.M.
author
Rivadeneira
F.
author
Robino
A.
author
Rosas
S.E.
author
Ruderfer
D.
author
Ruggiero
D.
author
Saba
Y.
author
Sala
C.
author
Schmidt
H.
author
Schmidt
R.
author
Scott
R.J.
author
Sedaghat
S.
author
Smith
A.V.
author
Sorice
R.
author
Stengel
B.
author
Stracke
S.
author
Strauch
K.
author
Toniolo
D.
author
Uitterlinden
A.G.
author
Ulivi
S.
author
Viikari
J.S.
author
Völker
U.
author
Vollenweider
P.
author
Völzke
H.
author
Vuckovic
D.
author
Waldenberger
M.
author
Jin Wang
J.
author
Yang
Q.
author
Chasman
D.I.
author
Tromp
G.
author
Snieder
H.
author
Heid
I.M.
author
Fox
C.S.
author
Köttgen
A.
author
Pattaro
C.
author
Böger
C.A.
author
Fuchsberger
C.
author
article
2017-04-28
Scientific reports
2045-2322
2045-2322
journal
7
45040
HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10(-8) previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until whole-genome sequencing becomes feasible in large samples.
eng
60_published
true
peer-reviewed
Publication types: Journal Article
Publication Status: epublish
University of Lausanne
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