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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 |
| Appears in Collections: | Elements Staff Publications |
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