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

Autoria(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.; CARDIoGRAM Consortium; ICBP Consortium; CARe Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2); 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.
Data(s)

2012
Resumo

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.
Identificador

http://serval.unil.ch/?id=serval:BIB_B9C5A0C7ADBD

isbn:1553-7404 (Electronic)

pmid:22479191

doi:10.1371/journal.pgen.1002584

isiid:000302254800059

http://my.unil.ch/serval/document/BIB_B9C5A0C7ADBD.pdf

http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B9C5A0C7ADBD1
Idioma(s)

en
Direitos

info:eu-repo/semantics/openAccess
Fonte

Plos Genetics, vol. 8, no. 3, pp. e1002584
Palavras-Chave #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
Tipo

info:eu-repo/semantics/article

article
Acesso ao item digital