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

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

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Open Access

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

Author(s) -

Afshin Parsa,

Christian Fuchsberger,

Anna Köttgen,

Conall M. O’Seaghdha,

Cristian Pattaro,

Mariza de Andrade,

Daniel I. Chasman,

Alexander Teumer,

Karlhans Endlich,

Matthias Olden,

MingHuei Chen,

Adrienne Tin,

Young Jin Kim,

Daniel Taliun,

Man Li,

Mary F. Feitosa,

Mathias Gorski,

Qiong Yang,

Claudia Hundertmark,

Meredith C. Foster,

Nicole L. Glazer,

Aaron Isaacs,

Madhumathi Rao,

Albert V. Smith,

Jeffrey R. O’Connell,

Maksim Struchalin,

Toshiko Tanaka,

Li Guo,

Shih-Jen Hwang,

Elizabeth J. Atkinson,

Kurt Lohman,

Marilyn C. Cornelis,

Åsa Johansson,

Anke Tönjes,

Abbas Dehghan,

Vincent Couraki,

Elizabeth G. Holliday,

Rossella Sorice,

Zoltán Kutalik,

Terho Lehtimäki,

Tōnu 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,

Guðný Eiríksdóttir,

Braxton D. Mitchell,

Eric Boerwinkle,

Helena Schmidt,

Edith Hofer,

Frank B. Hu,

Ayşe Demirkan,

Ben A. Oostra,

Stephen T. Turner,

Jingzhong Ding,

Jeanette S. Andrews,

Barry I. Freedman,

Franco Giulianini,

Wolfgang Köenig,

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,

Péter Kovács,

Michael Stümvoll,

Reedik Mägi,

Albert Hofman,

André G. Uitterlinden,

Fernando Rivadeneira,

Yurii S. Aulchenko,

Ozren Polašek,

Nick Hastie,

Véronique Vitart,

Catherine Helmer,

Jie Jin Wang,

Bénédicte Stengel,

Daniela Ruggiero,

Sven Bergmann,

Mika Kähönen,

Jorma Viikari,

Tiit Nikopensius,

Michael A. Province,

Helen M. Colhoun,

Alex S. F. Doney,

Antonietta Robino,

Bernhard K. Krämer,

Laura Portas,

Ian Ford,

Brendan M. Buckley,

Martin Adam,

Gian Andri Thun,

Bernhard Paulweber,

Margot Haun,

Cinzia Sala,

Paul Mitchell,

Marina Ciullo,

Péter Vollenweider,

Olli T. Raitakari,

Andres Metspalu,

Colin Palmer,

Paolo Gasparini,

Mario Pirastu,

J. Wouter Jukema,

Nicole ProbstHensch,

Florian Kronenberg,

Daniela Toniolo,

Vilmundur Guðnason,

Alan R. Shuldiner,

Josef Coresh,

Reinhold Schmidt,

Luigi Ferrucci,

Cornelia M. van Duijn,

Ingrid B. Borecki,

Sharon L. R. Kardia,

ChingTi Liu,

Gary C. Curhan,

Igor Rudan,

Ulf Gyllensten,

James F. Wilson,

André Franke,

Peter P. Pramstaller,

Rainer Rettig,

Inga Prokopenko,

Jacqueline C.M. Witteman,

Caroline Hayward,

Paul M. Ridker,

Murielle Bochud,

Iris M. Heid,

David S. Siscovick,

Caroline S. Fox,

WenHong L. Kao,

Carsten A. Böger

Publication year - 2013

Publication title -

journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.451

H-Index - 279

eISSN - 1533-3450

pISSN - 1046-6673

DOI - 10.1681/asn.2012100983

Subject(s) - single nucleotide polymorphism , genetics , mendelian inheritance , biology , genetic association , genome wide association study , omim : online mendelian inheritance in man , minor allele frequency , population , candidate gene , gene , phenotype , genotype , medicine , environmental health

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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