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

Parsa, Afshin and Fuchsberger, Christian and Köttgen, Anna and O'Seaghdha, Conall M. and Pattaro, Cristian and de Andrade, Mariza and Chasman, Daniel I. and Teumer, Alexander and Endlich, Karlhans and Olden, Matthias and Chen, Ming-Huei and Tin, Adrienne and Kim, Young J. and Taliun, Daniel and Li, Man and Feitosa, Mary and Gorski, Mathias and Yang, Qiong and Hundertmark, Claudia and Foster, Meredith C. and Glazer, Nicole and Isaacs, Aaron and Rao, Madhumathi and Smith, Albert V. and O'Connell, Jeffrey R. and Struchalin, Maksim and Tanaka, Toshiko and Li, Guo and Hwang, Shih-Jen and Atkinson, Elizabeth J. and Lohman, Kurt and Cornelis, Marilyn C. and Johansson, Asa and Tönjes, Anke and Dehghan, Abbas and Couraki, Vincent and Holliday, Elizabeth G. and Sorice, Rossella and Kutalik, Zoltan and Lehtimäki, Terho and Esko, Tõnu and Deshmukh, Harshal and Ulivi, Sheila and Chu, Audrey Y. and Murgia, Federico and Trompet, Stella and Imboden, Medea and Kollerits, Barbara and Pistis, Giorgio and Harris, Tamara B. and Launer, Lenore J. and Aspelund, Thor and Eiriksdottir, Gudny and Mitchell, Braxton D. and Boerwinkle, Eric and Schmidt, Helena and Hofer, Edith and Hu, Frank and Demirkan, Ayse and Oostra, Ben A. and Turner, Stephen T. and Ding, Jingzhong and Andrews, Jeanette S. and Freedman, Barry I. and Giulianini, Franco and Koenig, Wolfgang and Illig, Thomas and Döring, Angela and Wichmann, H-Erich and Zgaga, Lina and Zemunik, Tatijana and Boban, Mladen and Minelli, Cosetta and Wheeler, Heather E. and Igl, Wilmar and Zaboli, Ghazal and Wild, Sarah H. and Wright, Alan F. and Campbell, Harry and Ellinghaus, David and Nöthlings, Ute and Jacobs, Gunnar and Biffar, Reiner and Ernst, Florian and Homuth, Georg and Kroemer, Heyo K. and Nauck, Matthias and Stracke, Sylvia and Völker, Uwe and Völzke, Henry and Kovacs, Peter and Stumvoll, Michael and Mägi, Reedik and Hofman, Albert and Uitterlinden, Andre G. and Rivadeneira, Fernando and Aulchenko, Yurii S. and Polasek, Ozren and Hastie, Nick and Vitart, Veronique and Helmer, Catherine and Wang, Jie Jin and Stengel, Bénédicte and Ruggiero, Daniela and Bergmann, Sven and Kähönen, Mika and Viikari, Jorma and Nikopensius, Tiit and Province, Michael and Colhoun, Helen and Doney, Alex and Robino, Antonietta and Krämer, Bernhard K. and Portas, Laura and Ford, Ian and Buckley, Brendan M. and Adam, Martin and Thun, Gian-Andri and Paulweber, Bernhard and Haun, Margot and Sala, Cinzia and Mitchell, Paul and Ciullo, Marina and Vollenweider, Peter and Raitakari, Olli and Metspalu, Andres and Palmer, Colin and Gasparini, Paolo and Pirastu, Mario and Jukema, J. Wouter and Probst-Hensch, Nicole M. and Kronenberg, Florian and Toniolo, Daniela and Gudnason, Vilmundur and Shuldiner, Alan R. and Coresh, Josef and Schmidt, Reinhold and Ferrucci, Luigi and van Duijn, Cornelia M. and Borecki, Ingrid and Kardia, Sharon L. R. and Liu, Yongmei and Curhan, Gary C. and Rudan, Igor and Gyllensten, Ulf and Wilson, James F. and Franke, Andre and Pramstaller, Peter P. and Rettig, Rainer and Prokopenko, Inga and Witteman, Jacqueline and Hayward, Caroline and Ridker, Paul M. and Bochud, Murielle and Heid, Iris M. and Siscovick, David S. and Fox, Caroline S. and Kao, W. Linda and Böger, Carsten A.. (2013) Common variants in mendelian kidney disease genes and their association with renal function. Journal of the American Society of Nephrology, Vol. 24, H. 12. S. 2105-2117.

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Official URL: http://edoc.unibas.ch/dok/A6212249

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Abstract

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.
Faculties and Departments:09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH)
09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH) > Department of Epidemiology and Public Health (EPH) > Chronic Disease Epidemiology > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
03 Faculty of Medicine > Departement Public Health > Sozial- und Präventivmedizin > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
UniBasel Contributors:Imboden, Medea and Probst Hensch, Nicole
Item Type:Article, refereed
Bibsysno:Link to catalogue
Publisher:Lippincott Williams & Wilkins
ISSN:1046-6673
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:27 Feb 2014 15:45
Deposited On:27 Feb 2014 15:45

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