Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function

Afshin Parsa; Christian Fuchsberger; Anna Köttgen; Conall M. O’Seaghdha; Cristian Pattaro; Mariza de Andrade; Daniel I. Chasman; Alexander Teumer; Karlhans Endlich; Matthias Olden; Ming-Huei Chen; Adrienne Tin; Young J. Kim; Daniel Taliun; Man Li; Mary Feitosa; Mathias Gorski; Qiong Yang; Claudia Hundertmark; Meredith C. Foster; Nicole Glazer; Aaron Isaacs; Madhumathi Rao; Albert V. Smith; Jeffrey R. O’Connell; Maksim Struchalin; Toshiko Tanaka; Guo Li; Shih-Jen Hwang; Elizabeth J. Atkinson; Kurt Lohman; Marilyn C. Cornelis; Åsa Johansson; Anke Tönjes; Abbas Dehghan; Vincent Couraki; Elizabeth G. Holliday; Rossella Sorice; Zoltan Kutalik; Terho Lehtimäki; Tõnu Esko; Harshal Deshmukh; Sheila Ulivi; Audrey Y. Chu; Federico Murgia; Stella Trompet; Medea Imboden; Barbara Kollerits; Giorgio Pistis; Tamara B. Harris; Lenore J. Launer; Thor Aspelund; Gudny Eiriksdottir; Braxton D. Mitchell; Eric Boerwinkle; Helena Schmidt; Edith Hofer; Frank Hu; Ayse Demirkan; Ben A. Oostra; Stephen T. Turner; Jingzhong Ding; Jeanette S. Andrews; Barry I. Freedman; Franco Giulianini; Wolfgang Koenig; Thomas Illig; Angela Döring; H.-Erich Wichmann; Lina Zgaga; Tatijana Zemunik; Mladen Boban; Cosetta Minelli; Heather E. Wheeler; Wilmar Igl; Ghazal Zaboli; Sarah H. Wild; Alan F. Wright; Harry Campbell; David Ellinghaus; Ute Nöthlings; Gunnar Jacobs; Reiner Biffar; Florian Ernst; Georg Homuth; Heyo K. Kroemer; Matthias Nauck; Sylvia Stracke; Uwe Völker; Henry Völzke; Peter Kovacs; Michael Stumvoll; Reedik Mägi; Albert Hofman; Andre G. Uitterlinden; Fernando Rivadeneira; Yurii S. Aulchenko; Ozren Polasek; Nick Hastie; Veronique Vitart; Inga Prokopenko

doi:10.1681/ASN.2012100983

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Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function

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Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function

Afshin Parsa, Christian Fuchsberger, Anna Köttgen, Conall M. O’Seaghdha, Cristian Pattaro, Mariza de Andrade, Daniel I. Chasman, Alexander Teumer, Karlhans Endlich, Matthias Olden, …

Journal of the American Society of Nephrology, Vol.24(12), pp.2105-2117

01/12/2013

DOI: https://doi.org/10.1681/ASN.2012100983

PMID: 24029420

Abstract

Clinical Research

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.

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Title: Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function
Creators: Afshin Parsa - University of Maryland, Baltimore
Christian Fuchsberger - University of Michigan–Ann Arbor
Anna Köttgen - University Medical Center Freiburg
Conall M. O’Seaghdha - National Heart Lung and Blood Institute
Cristian Pattaro - Eurac Research
Mariza de Andrade - Mayo Clinic
Daniel I. Chasman - Brigham and Women's Hospital
Alexander Teumer - Universität Greifswald
Karlhans Endlich - Universität Greifswald
Matthias Olden - University of Regensburg
Ming-Huei Chen
Adrienne Tin - Johns Hopkins University
Young J. Kim - Korea Research Institute of Bioscience and Biotechnology
Daniel Taliun - Eurac Research
Man Li - Johns Hopkins University
Mary Feitosa - Division of Statistical Genomics, Washington University School of Medicine, St. Louis, Missouri
Mathias Gorski - University Hospital Regensburg
Qiong Yang - Boston University
Claudia Hundertmark - University Medical Center Freiburg
Meredith C. Foster - Framingham Heart Study
Nicole Glazer - Boston University
Aaron Isaacs - Erasmus MC
Madhumathi Rao - Tufts Medical Center
Albert V. Smith - Icelandic Heart Association
Jeffrey R. O’Connell - University of Maryland, Baltimore
Maksim Struchalin - Departments of Epidemiology and Biostatistics and Forensic Molecular Biology, Erasmus Medical Center, Rotterdam, The Netherlands
Toshiko Tanaka - Institute of Aging
Guo Li - University of Washington
Shih-Jen Hwang - National Heart Lung and Blood Institute
Elizabeth J. Atkinson - Mayo Clinic
Kurt Lohman - Wake Forest University
Marilyn C. Cornelis - Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts
Åsa Johansson - Uppsala University
Anke Tönjes - IFB Adiposity Diseases
Abbas Dehghan - Erasmus MC
Vincent Couraki - Institut Pasteur de Lille
Elizabeth G. Holliday - Hunter Medical Research Institute
Rossella Sorice - Institute of Genetics and Biophysics
Zoltan Kutalik - University of Lausanne
Terho Lehtimäki - Tampere University
Tõnu Esko - University of Tartu
Harshal Deshmukh - University of Dundee
Sheila Ulivi - University of Trieste
Audrey Y. Chu - Brigham and Women's Hospital
Federico Murgia - CNR Institute of Population Genetics, Sassari, Italy
Stella Trompet - Leiden University Medical Center
Medea Imboden - University of Basel
Barbara Kollerits - Innsbruck Medical University
Giorgio Pistis - Mylan
Tamara B. Harris - National Institute on Aging
Lenore J. Launer - National Institute on Aging
Thor Aspelund - University of Iceland
Gudny Eiriksdottir - Icelandic Heart Association
Braxton D. Mitchell - University of Maryland, Baltimore
Eric Boerwinkle - The University of Texas Health Science Center at Houston
Helena Schmidt - Medical University of Graz
Edith Hofer - Medical University of Graz
Frank Hu - Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts
Ayse Demirkan - Erasmus MC
Ben A. Oostra - Erasmus MC
Stephen T. Turner - Mayo Clinic
Jingzhong Ding - Wake Forest University
Jeanette S. Andrews - Wake Forest University
Barry I. Freedman - Wake Forest University
Franco Giulianini - Brigham and Women's Hospital
Wolfgang Koenig - Universität Ulm
Thomas Illig - Helmholtz Zentrum München
Angela Döring - Helmholtz Zentrum München
H.-Erich Wichmann - Helmholtz Zentrum München
Lina Zgaga - University of Edinburgh
Tatijana Zemunik - University of Split
Mladen Boban - University of Split
Cosetta Minelli - Eurac Research
Heather E. Wheeler - Stanford University
Wilmar Igl - Uppsala University
Ghazal Zaboli - Uppsala University
Sarah H. Wild - University of Edinburgh
Alan F. Wright - Medical Research Council
Harry Campbell - University of Edinburgh
David Ellinghaus - Kiel University
Ute Nöthlings - University of Bonn
Gunnar Jacobs - University of Lübeck
Reiner Biffar - Universität Greifswald
Florian Ernst - Universität Greifswald
Georg Homuth - Universität Greifswald
Heyo K. Kroemer - Universität Greifswald
Matthias Nauck - Universitätsmedizin Greifswald
Sylvia Stracke - Universitätsmedizin Greifswald
Uwe Völker - Universität Greifswald
Henry Völzke - Universitätsmedizin Greifswald
Peter Kovacs - Leipzig University
Michael Stumvoll - Leipzig University
Reedik Mägi - University of Tartu
Albert Hofman - Erasmus MC
Andre G. Uitterlinden - Erasmus MC
Fernando Rivadeneira - Erasmus MC
Yurii S. Aulchenko - Erasmus MC
Ozren Polasek - University of Split
Nick Hastie - Medical Research Council
Veronique Vitart - Western General Hospital
Inga Prokopenko - School of Biosciences
Publication Details: Journal of the American Society of Nephrology, Vol.24(12), pp.2105-2117
Publisher: American Society of Nephrology
Number of pages: 13
Publication Date: 01/12/2013
Identifiers: 99928615302346; WOS:000328817300021
Academic Unit: School of Biosciences; Institute for Sustainability; Surrey Institute for People-Centred AI
Language: English
Resource Type: Journal article

Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function

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