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

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...

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Autores principales:	Cristian Pattaro, Anna Köttgen, Alexander Teumer, Maija Garnaas, Carsten A Böger, Christian Fuchsberger, Matthias Olden, Ming-Huei Chen, Adrienne Tin, Daniel Taliun, Man Li, Xiaoyi Gao, Mathias Gorski, Qiong Yang, Claudia Hundertmark, Meredith C Foster, Conall M O'Seaghdha, Nicole Glazer, Aaron Isaacs, Ching-Ti Liu, Albert V Smith, Jeffrey R O'Connell, Maksim Struchalin, Toshiko Tanaka, Guo Li, Andrew D Johnson, Hinco J Gierman, Mary Feitosa, Shih-Jen Hwang, Elizabeth J Atkinson, Kurt Lohman, Marilyn C Cornelis, Åsa Johansson, Anke Tönjes, Abbas Dehghan, Vincent Chouraki, 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, CARDIoGRAM Consortium, ICBP Consortium, CARe Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Tamara B Harris, Lenore J Launer, Thor Aspelund, Gudny Eiriksdottir, Braxton D Mitchell, Eric Boerwinkle, Helena Schmidt, Margherita Cavalieri, Madhumathi Rao, Frank B Hu, Ayse Demirkan, Ben A Oostra, Mariza de Andrade, Stephen T Turner, Jingzhong Ding, Jeanette S Andrews, Barry I Freedman, Wolfgang Koenig, Thomas Illig, Angela Döring, H-Erich Wichmann, Ivana Kolcic, 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, Karlhans Endlich, 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, Catherine Helmer, Jie Jin Wang, Daniela Ruggiero, Sven Bergmann, Mika Kähönen, Jorma Viikari, Tiit Nikopensius, Michael Province, Shamika Ketkar, Helen Colhoun, Alex Doney, Antonietta Robino, Franco Giulianini, Bernhard K Krämer, Laura Portas, Ian Ford, Brendan M Buckley, Martin Adam, Gian-Andri Thun, Bernhard Paulweber, Margot Haun, Cinzia Sala, Marie Metzger, Paul Mitchell, Marina Ciullo, Stuart K Kim, Peter Vollenweider, Olli Raitakari, Andres Metspalu, Colin Palmer, Paolo Gasparini, Mario Pirastu, J Wouter Jukema, Nicole M Probst-Hensch, Florian Kronenberg, Daniela Toniolo, Vilmundur Gudnason, Alan R Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, David S Siscovick, Cornelia M van Duijn, Ingrid Borecki, Sharon L R Kardia, Yongmei Liu, Gary C Curhan, Igor Rudan, Ulf Gyllensten, James F Wilson, Andre Franke, Peter P Pramstaller, Rainer Rettig, Inga Prokopenko, Jacqueline C M Witteman, Caroline Hayward, Paul Ridker, Afshin Parsa, Murielle Bochud, Iris M Heid, Wolfram Goessling, Daniel I Chasman, W H Linda Kao, Caroline S Fox
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Genetics QH426-470
Acceso en línea:	https://doaj.org/article/14344aa218b0488aac7fd77f4ecb7d22
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spelling	oai:doaj.org-article:14344aa218b0488aac7fd77f4ecb7d222021-11-18T06:18:46ZGenome-wide association and functional follow-up reveals new loci for kidney function.1553-73901553-740410.1371/journal.pgen.1002584https://doaj.org/article/14344aa218b0488aac7fd77f4ecb7d222012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22479191/pdf/?tool=EBIhttps://doaj.org/toc/1553-7390https://doaj.org/toc/1553-7404Chronic 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.Cristian PattaroAnna KöttgenAlexander TeumerMaija GarnaasCarsten A BögerChristian FuchsbergerMatthias OldenMing-Huei ChenAdrienne TinDaniel TaliunMan LiXiaoyi GaoMathias GorskiQiong YangClaudia HundertmarkMeredith C FosterConall M O'SeaghdhaNicole GlazerAaron IsaacsChing-Ti LiuAlbert V SmithJeffrey R O'ConnellMaksim StruchalinToshiko TanakaGuo LiAndrew D JohnsonHinco J GiermanMary FeitosaShih-Jen HwangElizabeth J AtkinsonKurt LohmanMarilyn C CornelisÅsa JohanssonAnke TönjesAbbas DehghanVincent ChourakiElizabeth G HollidayRossella SoriceZoltan KutalikTerho LehtimäkiTõnu EskoHarshal DeshmukhSheila UliviAudrey Y ChuFederico MurgiaStella TrompetMedea ImbodenBarbara KolleritsGiorgio PistisCARDIoGRAM ConsortiumICBP ConsortiumCARe ConsortiumWellcome Trust Case Control Consortium 2 (WTCCC2)Tamara B HarrisLenore J LaunerThor AspelundGudny EiriksdottirBraxton D MitchellEric BoerwinkleHelena SchmidtMargherita CavalieriMadhumathi RaoFrank B HuAyse DemirkanBen A OostraMariza de AndradeStephen T TurnerJingzhong DingJeanette S AndrewsBarry I FreedmanWolfgang KoenigThomas IlligAngela DöringH-Erich WichmannIvana KolcicTatijana ZemunikMladen BobanCosetta MinelliHeather E WheelerWilmar IglGhazal ZaboliSarah H WildAlan F WrightHarry CampbellDavid EllinghausUte NöthlingsGunnar JacobsReiner BiffarKarlhans EndlichFlorian ErnstGeorg HomuthHeyo K KroemerMatthias NauckSylvia StrackeUwe VölkerHenry VölzkePeter KovacsMichael StumvollReedik MägiAlbert HofmanAndre G UitterlindenFernando RivadeneiraYurii S AulchenkoOzren PolasekNick HastieVeronique VitartCatherine HelmerJie Jin WangDaniela RuggieroSven BergmannMika KähönenJorma ViikariTiit NikopensiusMichael ProvinceShamika KetkarHelen ColhounAlex DoneyAntonietta RobinoFranco GiulianiniBernhard K KrämerLaura PortasIan FordBrendan M BuckleyMartin AdamGian-Andri ThunBernhard PaulweberMargot HaunCinzia SalaMarie MetzgerPaul MitchellMarina CiulloStuart K KimPeter VollenweiderOlli RaitakariAndres MetspaluColin PalmerPaolo GaspariniMario PirastuJ Wouter JukemaNicole M Probst-HenschFlorian KronenbergDaniela TonioloVilmundur GudnasonAlan R ShuldinerJosef CoreshReinhold SchmidtLuigi FerrucciDavid S SiscovickCornelia M van DuijnIngrid BoreckiSharon L R KardiaYongmei LiuGary C CurhanIgor RudanUlf GyllenstenJames F WilsonAndre FrankePeter P PramstallerRainer RettigInga ProkopenkoJacqueline C M WittemanCaroline HaywardPaul RidkerAfshin ParsaMurielle BochudIris M HeidWolfram GoesslingDaniel I ChasmanW H Linda KaoCaroline S FoxPublic Library of Science (PLoS)articleGeneticsQH426-470ENPLoS Genetics, Vol 8, Iss 3, p e1002584 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Genetics QH426-470
spellingShingle	Genetics QH426-470 Cristian Pattaro Anna Köttgen Alexander Teumer Maija Garnaas Carsten A Böger Christian Fuchsberger Matthias Olden Ming-Huei Chen Adrienne Tin Daniel Taliun Man Li Xiaoyi Gao Mathias Gorski Qiong Yang Claudia Hundertmark Meredith C Foster Conall M O'Seaghdha Nicole Glazer Aaron Isaacs Ching-Ti Liu Albert V Smith Jeffrey R O'Connell Maksim Struchalin Toshiko Tanaka Guo Li Andrew D Johnson Hinco J Gierman Mary Feitosa Shih-Jen Hwang Elizabeth J Atkinson Kurt Lohman Marilyn C Cornelis Åsa Johansson Anke Tönjes Abbas Dehghan Vincent Chouraki 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 CARDIoGRAM Consortium ICBP Consortium CARe Consortium Wellcome Trust Case Control Consortium 2 (WTCCC2) Tamara B Harris Lenore J Launer Thor Aspelund Gudny Eiriksdottir Braxton D Mitchell Eric Boerwinkle Helena Schmidt Margherita Cavalieri Madhumathi Rao Frank B Hu Ayse Demirkan Ben A Oostra Mariza de Andrade Stephen T Turner Jingzhong Ding Jeanette S Andrews Barry I Freedman Wolfgang Koenig Thomas Illig Angela Döring H-Erich Wichmann Ivana Kolcic 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 Karlhans Endlich 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 Catherine Helmer Jie Jin Wang Daniela Ruggiero Sven Bergmann Mika Kähönen Jorma Viikari Tiit Nikopensius Michael Province Shamika Ketkar Helen Colhoun Alex Doney Antonietta Robino Franco Giulianini Bernhard K Krämer Laura Portas Ian Ford Brendan M Buckley Martin Adam Gian-Andri Thun Bernhard Paulweber Margot Haun Cinzia Sala Marie Metzger Paul Mitchell Marina Ciullo Stuart K Kim Peter Vollenweider Olli Raitakari Andres Metspalu Colin Palmer Paolo Gasparini Mario Pirastu J Wouter Jukema Nicole M Probst-Hensch Florian Kronenberg Daniela Toniolo Vilmundur Gudnason Alan R Shuldiner Josef Coresh Reinhold Schmidt Luigi Ferrucci David S Siscovick Cornelia M van Duijn Ingrid Borecki Sharon L R Kardia Yongmei Liu Gary C Curhan Igor Rudan Ulf Gyllensten James F Wilson Andre Franke Peter P Pramstaller Rainer Rettig Inga Prokopenko Jacqueline C M Witteman Caroline Hayward Paul Ridker Afshin Parsa Murielle Bochud Iris M Heid Wolfram Goessling Daniel I Chasman W H Linda Kao Caroline S Fox Genome-wide association and functional follow-up reveals new loci for kidney function.
description	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.
format	article
author	Cristian Pattaro Anna Köttgen Alexander Teumer Maija Garnaas Carsten A Böger Christian Fuchsberger Matthias Olden Ming-Huei Chen Adrienne Tin Daniel Taliun Man Li Xiaoyi Gao Mathias Gorski Qiong Yang Claudia Hundertmark Meredith C Foster Conall M O'Seaghdha Nicole Glazer Aaron Isaacs Ching-Ti Liu Albert V Smith Jeffrey R O'Connell Maksim Struchalin Toshiko Tanaka Guo Li Andrew D Johnson Hinco J Gierman Mary Feitosa Shih-Jen Hwang Elizabeth J Atkinson Kurt Lohman Marilyn C Cornelis Åsa Johansson Anke Tönjes Abbas Dehghan Vincent Chouraki 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 CARDIoGRAM Consortium ICBP Consortium CARe Consortium Wellcome Trust Case Control Consortium 2 (WTCCC2) Tamara B Harris Lenore J Launer Thor Aspelund Gudny Eiriksdottir Braxton D Mitchell Eric Boerwinkle Helena Schmidt Margherita Cavalieri Madhumathi Rao Frank B Hu Ayse Demirkan Ben A Oostra Mariza de Andrade Stephen T Turner Jingzhong Ding Jeanette S Andrews Barry I Freedman Wolfgang Koenig Thomas Illig Angela Döring H-Erich Wichmann Ivana Kolcic 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 Karlhans Endlich 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 Catherine Helmer Jie Jin Wang Daniela Ruggiero Sven Bergmann Mika Kähönen Jorma Viikari Tiit Nikopensius Michael Province Shamika Ketkar Helen Colhoun Alex Doney Antonietta Robino Franco Giulianini Bernhard K Krämer Laura Portas Ian Ford Brendan M Buckley Martin Adam Gian-Andri Thun Bernhard Paulweber Margot Haun Cinzia Sala Marie Metzger Paul Mitchell Marina Ciullo Stuart K Kim Peter Vollenweider Olli Raitakari Andres Metspalu Colin Palmer Paolo Gasparini Mario Pirastu J Wouter Jukema Nicole M Probst-Hensch Florian Kronenberg Daniela Toniolo Vilmundur Gudnason Alan R Shuldiner Josef Coresh Reinhold Schmidt Luigi Ferrucci David S Siscovick Cornelia M van Duijn Ingrid Borecki Sharon L R Kardia Yongmei Liu Gary C Curhan Igor Rudan Ulf Gyllensten James F Wilson Andre Franke Peter P Pramstaller Rainer Rettig Inga Prokopenko Jacqueline C M Witteman Caroline Hayward Paul Ridker Afshin Parsa Murielle Bochud Iris M Heid Wolfram Goessling Daniel I Chasman W H Linda Kao Caroline S Fox
author_facet	Cristian Pattaro Anna Köttgen Alexander Teumer Maija Garnaas Carsten A Böger Christian Fuchsberger Matthias Olden Ming-Huei Chen Adrienne Tin Daniel Taliun Man Li Xiaoyi Gao Mathias Gorski Qiong Yang Claudia Hundertmark Meredith C Foster Conall M O'Seaghdha Nicole Glazer Aaron Isaacs Ching-Ti Liu Albert V Smith Jeffrey R O'Connell Maksim Struchalin Toshiko Tanaka Guo Li Andrew D Johnson Hinco J Gierman Mary Feitosa Shih-Jen Hwang Elizabeth J Atkinson Kurt Lohman Marilyn C Cornelis Åsa Johansson Anke Tönjes Abbas Dehghan Vincent Chouraki 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 CARDIoGRAM Consortium ICBP Consortium CARe Consortium Wellcome Trust Case Control Consortium 2 (WTCCC2) Tamara B Harris Lenore J Launer Thor Aspelund Gudny Eiriksdottir Braxton D Mitchell Eric Boerwinkle Helena Schmidt Margherita Cavalieri Madhumathi Rao Frank B Hu Ayse Demirkan Ben A Oostra Mariza de Andrade Stephen T Turner Jingzhong Ding Jeanette S Andrews Barry I Freedman Wolfgang Koenig Thomas Illig Angela Döring H-Erich Wichmann Ivana Kolcic 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 Karlhans Endlich 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 Catherine Helmer Jie Jin Wang Daniela Ruggiero Sven Bergmann Mika Kähönen Jorma Viikari Tiit Nikopensius Michael Province Shamika Ketkar Helen Colhoun Alex Doney Antonietta Robino Franco Giulianini Bernhard K Krämer Laura Portas Ian Ford Brendan M Buckley Martin Adam Gian-Andri Thun Bernhard Paulweber Margot Haun Cinzia Sala Marie Metzger Paul Mitchell Marina Ciullo Stuart K Kim Peter Vollenweider Olli Raitakari Andres Metspalu Colin Palmer Paolo Gasparini Mario Pirastu J Wouter Jukema Nicole M Probst-Hensch Florian Kronenberg Daniela Toniolo Vilmundur Gudnason Alan R Shuldiner Josef Coresh Reinhold Schmidt Luigi Ferrucci David S Siscovick Cornelia M van Duijn Ingrid Borecki Sharon L R Kardia Yongmei Liu Gary C Curhan Igor Rudan Ulf Gyllensten James F Wilson Andre Franke Peter P Pramstaller Rainer Rettig Inga Prokopenko Jacqueline C M Witteman Caroline Hayward Paul Ridker Afshin Parsa Murielle Bochud Iris M Heid Wolfram Goessling Daniel I Chasman W H Linda Kao Caroline S Fox
author_sort	Cristian Pattaro
title	Genome-wide association and functional follow-up reveals new loci for kidney function.
title_short	Genome-wide association and functional follow-up reveals new loci for kidney function.
title_full	Genome-wide association and functional follow-up reveals new loci for kidney function.
title_fullStr	Genome-wide association and functional follow-up reveals new loci for kidney function.
title_full_unstemmed	Genome-wide association and functional follow-up reveals new loci for kidney function.
title_sort	genome-wide association and functional follow-up reveals new loci for kidney function.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/14344aa218b0488aac7fd77f4ecb7d22
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paulmitchell genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT marinaciullo genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT stuartkkim genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT petervollenweider genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT olliraitakari genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT andresmetspalu genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT colinpalmer genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT paologasparini genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT mariopirastu genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT jwouterjukema genomewideassociationandfunctionalfollowuprevealsnewlociforkidneyfunction AT nicolemprobsthensch 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Genome-wide association and functional follow-up reveals new loci for kidney function.

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