Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pgen.1002584
Title: Genome-wide association and functional follow-up reveals new loci for kidney function
Authors: Pattaro C.
Köttgen A.
Teumer A.
Garnaas M.
Böger C.A.
Fuchsberger C.
Olden M.
Chen M.-H.
Tin A.
Taliun D.
Li M.
Gao X.
Gorski M.
Yang Q.
Hundertmark C.
Foster M.C.
O'Seaghdha C.M.
Glazer N.
Isaacs A.
Liu C.-T.
Smith A.V.
O'Connell J.R.
Struchalin M.
Tanaka T.
Li G.
Johnson A.D.
Gierman H.J.
Feitosa M.
Hwang S.-J.
Atkinson E.J.
Lohman K.
Cornelis M.C.
Johansson A.
Tönjes A.
Dehghan A.
Chouraki V.
Holliday E.G.
Sorice R.
Kutalik Z.
Lehtimäki T.
Esko T.
Deshmukh H.
Ulivi S.
Chu A.Y.
Murgia F.
Trompet S.
Imboden M.
Kollerits B.
Pistis G.
Harris T.B.
Launer L.J.
Aspelund T.
Eiriksdottir G.
Mitchell B.D.
Boerwinkle E.
Schmidt H.
Cavalieri M.
Rao M.
Hu F.B.
Demirkan A.
Oostra B.A.
de Andrade M.
Turner S.T.
Ding J.
Andrews J.S.
Freedman B.I.
Koenig W.
Illig T.
Döring A.
Wichmann H.-E.
Kolcic I.
Zemunik T.
Boban M.
Minelli C.
Wheeler H.E.
Igl W.
Zaboli G.
Wild S.H.
Wright A.F.
Campbell H.
Ellinghaus D.
Nöthlings U.
Jacobs G.
Biffar R.
Endlich K.
Ernst F.
Homuth G.
Kroemer H.K.
Nauck M.
Stracke S.
Völker U.
Völzke H.
Kovacs P.
Stumvoll M.
Mägi R.
Hofman A.
Uitterlinden A.G.
Rivadeneira F.
Aulchenko Y.S.
Polasek O.
Hastie N.
Vitart V.
Helmer C.
Wang J.J. 
Ruggiero D.
Bergmann S.
Kähönen M.
Viikari J.
Nikopensius T.
Province M.
Ketkar S.
Colhoun H.
Doney A.
Robino A.
Giulianini F.
Krämer B.K.
Portas L.
Ford I.
Buckley B.M.
Adam M.
Thun G.-A.
Paulweber B.
Haun M.
Sala C.
Metzger M.
Mitchell P.
Ciullo M.
Kim S.K.
Vollenweider P.
Raitakari O.
Metspalu A.
Palmer C.
Gasparini P.
Pirastu M.
Jukema J.W.
Probst-Hensch N.M.
Kronenberg F.
Toniolo D.
Gudnason V.
Shuldiner A.R.
Coresh J.
Schmidt R.
Ferrucci L.
Siscovick D.S.
van Duijn C.M.
Borecki I.
Kardia S.L.R.
Liu Y.
Curhan G.C.
Rudan I.
Gyllensten U.
Wilson J.F.
Franke A.
Pramstaller P.P.
Rettig R.
Prokopenko I.
Witteman J.C.M.
Hayward C.
Ridker P.
Parsa A.
Bochud M.
Heid I.M.
Goessling W.
Chasman D.I.
Kao W.H.L.
Fox C.S.
Keywords: dextran
CASP9 protein, human
caspase 9
CDK12 protein, human
cyclin dependent kinase
DDX1 protein, human
DEAD box protein
helicase
INO80 protein, human
MPPED2 protein, human
phosphodiesterase
African American
article
CASP9 gene
Cdk1 gene
chronic kidney disease
controlled study
DDX1 gene
embryo
ethnic group
European
gene
gene function
gene locus
genetic association
genome analysis
glomerulus filtration rate
human
INO80 gene
kidney clearance
kidney function
MPPED2 gene
nonhuman
podocyte
risk assessment
risk factor
single nucleotide polymorphism
SLC47A1 gene
zebra fish
aged
animal
Caucasian
chronic kidney failure
female
follow up
gene silencing
genetics
glomerulus filtration rate
kidney
male
meta analysis
middle aged
pathology
pathophysiology
zebra fish
Danio rerio
African Americans
Aged
Animals
Caspase 9
Cyclin-Dependent Kinases
DEAD-box RNA Helicases
DNA Helicases
European Continental Ancestry Group
Female
Follow-Up Studies
Gene Knockdown Techniques
Genome-Wide Association Study
Glomerular Filtration Rate
Humans
Kidney
Kidney Failure, Chronic
Male
Middle Aged
Phosphoric Diester Hydrolases
Zebrafish
Issue Date: 2012
Citation: Pattaro C., Köttgen A., Teumer A., Garnaas M., Böger C.A., Fuchsberger C., Olden M., Chen M.-H., Tin A., Taliun D., Li M., Gao X., Gorski M., Yang Q., Hundertmark C., Foster M.C., O'Seaghdha C.M., Glazer N., Isaacs A., Liu C.-T., Smith A.V., O'Connell J.R., Struchalin M., Tanaka T., Li G., Johnson A.D., Gierman H.J., Feitosa M., Hwang S.-J., Atkinson E.J., Lohman K., Cornelis M.C., Johansson A., Tönjes A., Dehghan A., Chouraki V., Holliday E.G., Sorice R., Kutalik Z., Lehtimäki T., Esko T., Deshmukh H., Ulivi S., Chu A.Y., Murgia F., Trompet S., Imboden M., Kollerits B., Pistis G., Harris T.B., Launer L.J., Aspelund T., Eiriksdottir G., Mitchell B.D., Boerwinkle E., Schmidt H., Cavalieri M., Rao M., Hu F.B., Demirkan A., Oostra B.A., de Andrade M., Turner S.T., Ding J., Andrews J.S., Freedman B.I., Koenig W., Illig T., Döring A., Wichmann H.-E., Kolcic I., Zemunik T., Boban M., Minelli C., Wheeler H.E., Igl W., Zaboli G., Wild S.H., Wright A.F., Campbell H., Ellinghaus D., Nöthlings U., Jacobs G., Biffar R., Endlich K., Ernst F., Homuth G., Kroemer H.K., Nauck M., Stracke S., Völker U., Völzke H., Kovacs P., Stumvoll M., Mägi R., Hofman A., Uitterlinden A.G., Rivadeneira F., Aulchenko Y.S., Polasek O., Hastie N., Vitart V., Helmer C., Wang J.J., Ruggiero D., Bergmann S., Kähönen M., Viikari J., Nikopensius T., Province M., Ketkar S., Colhoun H., Doney A., Robino A., Giulianini F., Krämer B.K., Portas L., Ford I., Buckley B.M., Adam M., Thun G.-A., Paulweber B., Haun M., Sala C., Metzger M., Mitchell P., Ciullo M., Kim S.K., Vollenweider P., Raitakari O., Metspalu A., Palmer C., Gasparini P., Pirastu M., Jukema J.W., Probst-Hensch N.M., Kronenberg F., Toniolo D., Gudnason V., Shuldiner A.R., Coresh J., Schmidt R., Ferrucci L., Siscovick D.S., van Duijn C.M., Borecki I., Kardia S.L.R., Liu Y., Curhan G.C., Rudan I., Gyllensten U., Wilson J.F., Franke A., Pramstaller P.P., Rettig R., Prokopenko I., Witteman J.C.M., Hayward C., Ridker P., Parsa A., Bochud M., Heid I.M., Goessling W., Chasman D.I., Kao W.H.L., Fox C.S. (2012). Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genetics 8 (3) : e1002584. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1002584
Rights: Attribution 4.0 International
Abstract: 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. © 2012 Pattaro et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Source Title: PLoS Genetics
URI: https://scholarbank.nus.edu.sg/handle/10635/161642
ISSN: 15537390
DOI: 10.1371/journal.pgen.1002584
Rights: Attribution 4.0 International
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