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

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, Å.; 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.; 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.; Liu, Y.; Curhan, G.C.; Rudan, I.; Gyllensten, U.; Wilson, J.F.; Franke, A.; Pramstaller, P.P.; Rettig, R.; Prokopenko, I.; Witteman, J.C.; Hayward, C.; Ridker, P.; Parsa, A.; Bochud, M.; Heid, I.M.; Goessling, W.; Chasman, D.I.; Kao, W.H.; Fox, C.S.

doi:10.1371/journal.pgen.1002584

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

Détails

Télécharger: BIB_B9C5A0C7ADBD.P001.pdf (2662.02 [Ko])
Etat: Public
Version: de l'auteur⸱e

ID Serval

serval:BIB_B9C5A0C7ADBD

Type

Article: article d'un périodique ou d'un magazine.

Collection

Publications

Institution

UNIL/CHUV

Titre

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

Périodique

Plos Genetics

Auteur⸱e⸱s

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 Å., 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., 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., Liu Y., Curhan G.C., Rudan I., Gyllensten U., Wilson J.F., Franke A., Pramstaller P.P., Rettig R., Prokopenko I., Witteman J.C., Hayward C., Ridker P., Parsa A., Bochud M., Heid I.M., Goessling W., Chasman D.I., Kao W.H., Fox C.S.

Collaborateur⸱rice⸱s

CARDIoGRAM Consortium, ICBP Consortium, CARe Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2)

Contributeur⸱rice⸱s

Olson J., Kronmal R., Robbins J., Chaves PH., Burke G., Kuller LH., Tracy R., Gottdiener J., Prineas R., Becker JT., Enright P., Klein R., O'Leary DH.

ISSN

1553-7404 (Electronic)

ISSN-L

1553-7390

Statut éditorial

Publié

Date de publication

2012

Peer-reviewed

Oui

Volume

Numéro

Pages

e1002584

Langue

anglais

Notes

Publication types: Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
Publication Status: ppublish

Résumé

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.

Mots-clé

African Americans/genetics, Aged, Animals, Caspase 9/genetics, Cyclin-Dependent Kinases/genetics, DEAD-box RNA Helicases/genetics, DNA Helicases/genetics, European Continental Ancestry Group/genetics, Female, Follow-Up Studies, Gene Knockdown Techniques, Genome-Wide Association Study, Glomerular Filtration Rate/genetics, Humans, Kidney/physiopathology, Kidney Failure, Chronic/genetics, Kidney Failure, Chronic/pathology, Male, Middle Aged, Phosphoric Diester Hydrolases/genetics, Zebrafish/genetics

URN

urn:nbn:ch:serval-BIB_B9C5A0C7ADBD1

OAI-PMH

oai:serval.unil.ch:BIB_B9C5A0C7ADBD

DOI

10.1371/journal.pgen.1002584

Pubmed

22479191

Web of science

000302254800059

Open Access

Oui