Common variants in mendelian kidney disease genes and their association with renal function.

Parsa, A.; Fuchsberger, C.; Köttgen, A.; O'Seaghdha, C.M.; Pattaro, C.; de Andrade, M.; Chasman, D.I.; Teumer, A.; Endlich, K.; Olden, M.; Chen, M.H.; Tin, A.; Kim, Y.J.; Taliun, D.; Li, M.; Feitosa, M.; Gorski, M.; Yang, Q.; Hundertmark, C.; Foster, M.C.; Glazer, N.; Isaacs, A.; Rao, M.; Smith, A.V.; O'Connell, J.R.; Struchalin, M.; Tanaka, T.; Li, G.; Hwang, S.J.; Atkinson, E.J.; Lohman, K.; Cornelis, M.C.; Johansson, A.; Tönjes, A.; Dehghan, A.; Couraki, 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.; Hofer, E.; Hu, F.; Demirkan, A.; Oostra, B.A.; Turner, S.T.; Ding, J.; Andrews, J.S.; Freedman, B.I.; Giulianini, F.; Koenig, W.; Illig, T.; Döring, A.; Wichmann, H.E.; Zgaga, L.; 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.; 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.; Stengel, B.; Ruggiero, D.; Bergmann, S.; Kähönen, M.; Viikari, J.; Nikopensius, T.; Province, M.; Colhoun, H.; Doney, A.; Robino, A.; Krämer, B.K.; Portas, L.; Ford, I.; Buckley, B.M.; Adam, M.; Thun, G.A.; Paulweber, B.; Haun, M.; Sala, C.; Mitchell, P.; Ciullo, M.; 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.; 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.; Hayward, C.; Ridker, P.M.; Bochud, M.; Heid, I.M.; Siscovick, D.S.; Fox, C.S.; Kao, W.L.; Böger, C.A.

doi:10.1681/ASN.2012100983

Common variants in mendelian kidney disease genes and their association with renal function.

Détails

Demande d'une copie

ID Serval

serval:BIB_A6FEE2A2AE69

Type

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

Collection

Publications

Institution

UNIL/CHUV

Titre

Common variants in mendelian kidney disease genes and their association with renal function.

Périodique

Journal of the American Society of Nephrology

Auteur⸱e⸱s

Parsa A., Fuchsberger C., Köttgen A., O'Seaghdha C.M., Pattaro C., de Andrade M., Chasman D.I., Teumer A., Endlich K., Olden M., Chen M.H., Tin A., Kim Y.J., Taliun D., Li M., Feitosa M., Gorski M., Yang Q., Hundertmark C., Foster M.C., Glazer N., Isaacs A., Rao M., Smith A.V., O'Connell J.R., Struchalin M., Tanaka T., Li G., Hwang S.J., Atkinson E.J., Lohman K., Cornelis M.C., Johansson A., Tönjes A., Dehghan A., Couraki 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., Hofer E., Hu F., Demirkan A., Oostra B.A., Turner S.T., Ding J., Andrews J.S., Freedman B.I., Giulianini F., Koenig W., Illig T., Döring A., Wichmann H.E., Zgaga L., 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., 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., Stengel B., Ruggiero D., Bergmann S., Kähönen M., Viikari J., Nikopensius T., Province M., Colhoun H., Doney A., Robino A., Krämer B.K., Portas L., Ford I., Buckley B.M., Adam M., Thun G.A., Paulweber B., Haun M., Sala C., Mitchell P., Ciullo M., 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., 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., Hayward C., Ridker P.M., Bochud M., Heid I.M., Siscovick D.S., Fox C.S., Kao W.L., Böger C.A.

ISSN

1533-3450 (Electronic)

ISSN-L

1046-6673

Statut éditorial

Publié

Date de publication

2013

Volume

Numéro

Pages

2105-2117

Langue

anglais

Notes

Publication types: Journal Article Publication Status: ppublish

Résumé

Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.

OAI-PMH

oai:serval.unil.ch:BIB_A6FEE2A2AE69

DOI

10.1681/ASN.2012100983

Pubmed

24029420

Web of science

000328817300021

Open Access

Oui

Création de la notice

09/12/2013 15:31