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GWAS Study

Genome-wide association and functional follow-up reveals new loci for kidney function.

Pattaro C, Köttgen A, Teumer A et al.

22479191 PubMed ID
GWAS Study Type
130600 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PC
Pattaro C
KA
Köttgen A
TA
Teumer A
GM
Garnaas M
BC
Böger CA
FC
Fuchsberger C
OM
Olden M
CM
Chen MH
TA
Tin A
TD
Taliun D
LM
Li M
GX
Gao X
GM
Gorski M
YQ
Yang Q
HC
Hundertmark C
FM
Foster MC
OC
O'Seaghdha CM
GN
Glazer N
IA
Isaacs A
LC
Liu CT
SA
Smith AV
OJ
O'Connell JR
SM
Struchalin M
TT
Tanaka T
LG
Li G
JA
Johnson AD
GH
Gierman HJ
FM
Feitosa M
HS
Hwang SJ
AE
Atkinson EJ
LK
Lohman K
CM
Cornelis MC
Johansson Å
TA
Tönjes A
DA
Dehghan A
CV
Chouraki V
HE
Holliday EG
SR
Sorice R
KZ
Kutalik Z
LT
Lehtimäki T
ET
Esko T
DH
Deshmukh H
US
Ulivi S
CA
Chu AY
MF
Murgia F
TS
Trompet S
IM
Imboden M
KB
Kollerits B
PG
Pistis G
HT
Harris TB
LL
Launer LJ
AT
Aspelund T
EG
Eiriksdottir G
MB
Mitchell BD
BE
Boerwinkle E
SH
Schmidt H
CM
Cavalieri M
RM
Rao M
HF
Hu FB
DA
Demirkan A
OB
Oostra BA
DA
de Andrade M
TS
Turner ST
DJ
Ding J
AJ
Andrews JS
FB
Freedman BI
KW
Koenig W
IT
Illig T
DA
Döring A
WH
Wichmann HE
KI
Kolcic I
ZT
Zemunik T
BM
Boban M
MC
Minelli C
WH
Wheeler HE
IW
Igl W
ZG
Zaboli G
WS
Wild SH
WA
Wright AF
CH
Campbell H
ED
Ellinghaus D
NU
Nöthlings U
JG
Jacobs G
BR
Biffar R
EK
Endlich K
EF
Ernst F
HG
Homuth G
KH
Kroemer HK
NM
Nauck M
SS
Stracke S
VU
Völker U
VH
Völzke H
KP
Kovacs P
SM
Stumvoll M
MR
Mägi R
HA
Hofman A
UA
Uitterlinden AG
RF
Rivadeneira F
AY
Aulchenko YS
PO
Polasek O
HN
Hastie N
VV
Vitart V
HC
Helmer C
WJ
Wang JJ
RD
Ruggiero D
BS
Bergmann S
KM
Kähönen M
VJ
Viikari J
NT
Nikopensius T
PM
Province M
KS
Ketkar S
CH
Colhoun H
DA
Doney A
RA
Robino A
GF
Giulianini F
KB
Krämer BK
PL
Portas L
FI
Ford I
BB
Buckley BM
AM
Adam M
TG
Thun GA
PB
Paulweber B
HM
Haun M
SC
Sala C
MM
Metzger M
MP
Mitchell P
CM
Ciullo M
KS
Kim SK
VP
Vollenweider P
RO
Raitakari O
MA
Metspalu A
PC
Palmer C
GP
Gasparini P
PM
Pirastu M
JJ
Jukema JW
PN
Probst-Hensch NM
KF
Kronenberg F
TD
Toniolo D
GV
Gudnason V
SA
Shuldiner AR
CJ
Coresh J
SR
Schmidt R
FL
Ferrucci L
SD
Siscovick DS
VD
van Duijn CM
BI
Borecki I
KS
Kardia SL
LY
Liu Y
CG
Curhan GC
RI
Rudan I
GU
Gyllensten U
WJ
Wilson JF
FA
Franke A
PP
Pramstaller PP
RR
Rettig R
PI
Prokopenko I
WJ
Witteman JC
HC
Hayward C
RP
Ridker P
PA
Parsa A
BM
Bochud M
HI
Heid IM
GW
Goessling W
CD
Chasman DI
KW
Kao WH
FC
Fox CS
Chapter II

Abstract

Summary of the research findings

Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.

74,354 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

130600
Total Participants
GWAS
Study Type
Yes
Replicated
56,246 European ancestry individuals
Replication Participants
European
Ancestry
Chapter IV

Analysis

Comprehensive review of health and genetic findings

Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.

Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.