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

Autor: Afshin Parsa, 1§ Christian Fuchsberger, 2§ Anna Köttgen, 3, 4§ Conall M. O'Seaghdha, 5, 6§ Cristian Pattaro, 7§ Mariza de Andrade, 8§ Daniel I. Chasman, 9, 11 Alexander Teumer, 12 Karlhans Endlich, Matthias Olden, 15 Ming-Huei Chen, 17 Adrienne Tin, 4 Young J. Kim, 125 Daniel Taliun, 7 Man Li, 4 Mary Feitosa, 18 Mathias Gorski, 20 Qiong Yang, 21 Claudia Hundertmark, 22 Meredith C. Foster, 5 Nicole Glazer, 23 Aaron Isaacs, 25 Madhumathi Rao, 26 Albert V. Smith, 28 Jeffrey R. O'Connell, 29 Maksim Struchalin, 30 Toshiko Tanaka, 31 Guo Li, 32 Shih-Jen Hwang, 5 Elizabeth J. Atkinson, 8 Kurt Lohman, 33 Marilyn C. Cornelis, 34 Åsa Johansson, 35 Anke Tönjes, 37 Abbas Dehghan, 38 Vincent Couraki39 Elizabeth G. Holliday, 41 Rossella Sorice, 42 Zoltan Kutalik, 44 Terho Lehtimäki, 45 Tõnu Esko, 47 Harshal Deshmukh, 48 Sheila Ulivi, 49 Audrey Y. Chu, 50 Federico Murgia, 51 Stella Trompet, 52 Medea Imboden, 118 Barbara Kollerits, 54 Giorgio Pistis, 55 Tamara B. Harris, 56 Lenore J. Launer, 56 Thor Aspelund, 28 Gudny Eiriksdottir, 27 Braxton D. Mitchell, 29 Eric Boerwinkle, 57 Helena Schmidt, 58 Edith Hofer, 59 Frank Hu, 34 Ayse Demirkan, 24 Ben A. Oostra, 126 Stephen T. Turner, 60 Jingzhong Ding, 61 Jeanette S. Andrews, 62 Barry I. Freedman, 63 Franco Giulianini, 64 Wolfgang Koenig, 65 Thomas Illig, 116, 117Angela Döring, 20 H.-Erich Wichmann, 68 Lina Zgaga, 69 Tatijana Zemunik, 70 Mladen Boban, 70 Cosetta Minelli, 7 Heather E. Wheeler, 72 Wilmar Igl, 35 Ghazal Zaboli, 35 Sarah H Wild, 69 Alan F Wright, 73 Harry Campbell, 69 David Ellinghaus, 74 Ute Nöthlings, 121, 122 Gunnar Jacobs, 121 Reiner Biffar, 76 Florian Ernst, 12 Georg Homuth, 12 Heyo K. Kroemer, 77 Matthias Nauck, 78 Sylvia Stracke, 79 Uwe Völker, 12 Henry Völzke, 80 Peter Kovacs, 81 Michael Stumvoll, 37 Reedik Mägi, 83 Albert Hofman, 38 Andre G. Uitterlinden, 84 Fernando Rivadeneira, 84 Yurii S Aulchenko, 38 Ozren Polasek, 85 Nick Hastie, 86 Veronique Vitart, 86 Catherine Helmer, 88 Jie Jin Wang, 90 Bénédicte Stengel, 124 Daniela Ruggiero, 42 Sven Bergmann, 44 Mika Kähönen, 92 Jorma Viikari, 93 Tiit Nikopensius, 94 Michael Province, 18 Helen Colhoun, 48 Alex Doney, 95 Antonietta Robino, 49 Bernhard K. Krämer, 96 Laura Portas, 51 Ian Ford, 97 Brendan M. Buckley, 98 Martin Adam, 118 Gian-Andri Thun, 118 Bernhard Paulweber, 99 Margot Haun, 100 Cinzia Sala, 55 Paul Mitchell, 89 Marina Ciullo, 42 Peter Vollenweider, 101 Olli Raitakari, 102 Andres Metspalu, 47 Colin Palmer, 103 Paolo Gasparini, 49 Mario Pirastu, 51 J. Wouter Jukema, 104, 119, 120 Nicole M. Probst-Hensch, 118 Florian Kronenberg, 54 Daniela Toniolo, 128 Vilmundur Gudnason, 28 Alan R. Shuldiner, 105 Josef Coresh, 4, 106 Reinhold Schmidt, 59 Luigi Ferrucci, 31 Cornelia M. van Duijn, 127 Ingrid Borecki, 18 Sharon L.R. Kardia, 107 Yongmei Liu, 33 Gary C. Curhan, 108 Igor Rudan, 69 Ulf Gyllensten, 35 James F. Wilson, 69 Andre Franke, 74 Peter P. Pramstaller, 7 Rainer Rettig, 109 Inga Prokopenko, 123 Jacqueline Witteman, 38 Caroline Hayward, 86 Paul M Ridker, 110 Murielle Bochud, 111 Iris M. Heid, 112, 113 David S. Siscovick, 32§ Caroline S. Fox, 114§ W. Linda Kao, 106§ Carsten A. Böger115§ §Writing/Working group

Publikováno v: Journal of the American Society of Nephrology, 24(12), 2105-17. American Society of Nephrology
Journal of the American Society of Nephrology, 24(12), 2105-2117. American Society of Nephrology
Journal of the American Society of Nephrology, 24(12), 2105-2117
Journal of the American Society of Nephrology; Vol 24
Europe PubMed Central
Journal of the American Society of Nephrology (2013). doi:10.1681/ASN.2012100983.
info:cnr-pdr/source/autori:Parsa A1, Fuchsberger C, Köttgen A, O'Seaghdha CM, Pattaro C, de Andrade M, Chasman DI, Teumer A, Endlich K, Olden M, Chen MH, Tin A, Kim YJ, Taliun D, Li M, Feitosa M, Gorski M, Yang Q, Hundertmark C, Foster MC, Glazer N, Isaacs A, Rao M, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Hwang SJ, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Tönjes A, Dehghan A, Couraki V, Holliday EG, Sorice R, Kutalik Z, Lehtimäki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Kollerits B, Pistis G, Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Hofer E, Hu F, Demirkan A, Oostra BA, Turner ST, Ding J, Andrews JS, Freedman BI, Giulianini F, Koenig W, Illig T, Döring A, Wichmann HE, Zgaga L, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Nöthlings U, Jacobs G, Biffar R, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Völker U, Völzke H, Kovacs P, Stumvoll M, Mägi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kähönen M, Viikari J, Nikopensius T, Province M, Colhoun H, Doney A, Robino A, Krämer BK, Portas L, Ford I, Buckley BM, Adam M, Thun GA, Paulweber B, Haun M, Sala C, Mitchell P, Ciullo M, Vollenweider P, Raitakari O, Metspalu A, Palmer C, Gasparini P, Pirastu M, Jukema JW, Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, van Duijn CM, Borecki I, Kardia SL, Liu Y, Curhan GC, Rudan I, Gyllensten U, Wilson JF, Franke A, Pramstaller PP, Rettig R, Prokopenko I, Witteman J, Hayward C, Ridker PM, Bochud M, Heid IM, Siscovick DS, Fox CS, Kao WL, Böger CA./titolo:Common variants in Mendelian kidney disease genes and their association with renal function./doi:10.1681%2FASN.2012100983./rivista:Journal of the American Society of Nephrology/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume
Journal of the American Society of Nephrology (Online) (2013). doi:10.1681/ASN.2012100983
info:cnr-pdr/source/autori:Afshin Parsa, 1§ Christian Fuchsberger,2§ Anna Köttgen,3,4§ Conall M. O'Seaghdha,5,6§ Cristian Pattaro,7§ Mariza de Andrade,8§ Daniel I. Chasman,9,10,11 Alexander Teumer,12 Karlhans Endlich,13, Matthias Olden,5,14,15 Ming-Huei Chen,16,17 Adrienne Tin,4 Young J. Kim,29,125 Daniel Taliun,7 Man Li,4 Mary Feitosa,18 Mathias Gorski,19,20 Qiong Yang,21 Claudia Hundertmark,22 Meredith C. Foster,5 Nicole Glazer,23 Aaron Isaacs,24,25 Madhumathi Rao,26 Albert V. Smith,27,28 Jeffrey R. O'Connell,29 Maksim Struchalin,30 Toshiko Tanaka,31 Guo Li,32 Shih-Jen Hwang,5 Elizabeth J. Atkinson,8 Kurt Lohman,33 Marilyn C. Cornelis,34 Åsa Johansson,35 Anke Tönjes,36,37 Abbas Dehghan,38 Vincent Couraki39 Elizabeth G. Holliday,40,41 Rossella Sorice,42 Zoltan Kutalik,43,44 Terho Lehtimäki,45 Tõnu Esko,46,47 Harshal Deshmukh,48 Sheila Ulivi,49 Audrey Y. Chu,9,50 Federico Murgia,51 Stella Trompet,52 Medea Imboden,53,118 Barbara Kollerits,54 Giorgio Pistis,55 Tamara B. Harris,56 Lenore J. Launer,56 Thor Aspelund,27,28 Gudny Eiriksdottir,27 Braxton D. Mitchell,29 Eric Boerwinkle,57 Helena Schmidt,58 Edith Hofer,59 Frank Hu,34 Ayse Demirkan,24 Ben A. Oostra,24,126 Stephen T. Turner,60 Jingzhong Ding,61 Jeanette S. Andrews,62 Barry I. Freedman,63 Franco Giulianini,9,64 Wolfgang Koenig,65 Thomas Illig,116,117Angela Döring,66,20 H.-Erich Wichmann,20,67,68 Lina Zgaga,69 Tatijana Zemunik,70 Mladen Boban,70 Cosetta Minelli,7 Heather E. Wheeler,71,72 Wilmar Igl,35 Ghazal Zaboli,35 Sarah H Wild,69 Alan F Wright,73 Harry Campbell,69 David Ellinghaus,74 Ute Nöthlings,75,121,122 Gunnar Jacobs, 75,121 Reiner Biffar,76 Florian Ernst,12 Georg Homuth,12 Heyo K. Kroemer,77 Matthias Nauck,78 Sylvia Stracke,79 Uwe Völker,12 Henry Völzke,80 Peter Kovacs,81 Michael Stumvoll,36,37 Reedik Mägi,82,83 Albert Hofman,38 Andre G. Uitterlinden,84 Fernando Rivadeneira,84 Yurii S Aulchenko,38 Ozren Polasek,85 Nick Hastie,86 Veronique Vitart,86 Catherine Helmer,87,88 Jie Jin Wang,89,90 Bénédicte Stengel,91,124 Daniela Ruggiero,42 Sven Bergmann,44 Mika Kähönen,92 Jorma Viikari,93 Tiit Nikopensius,94 Michael Province,18 Helen Colhoun,48 Alex Doney,95 Antonietta Robino,49 Bernhard K. Krämer,96 Laura Portas,51 Ian Ford,97 Brendan M. Buckley,98 Martin Adam,53,118 Gian-Andri Thun,53,118 Bernhard Paulweber,99 Margot Haun,100 Cinzia Sala,55 Paul Mitchell,89 Marina Ciullo,42 Peter Vollenweider,101 Olli Raitakari,102 Andres Metspalu, 46,47 Colin Palmer,103 Paolo Gasparini,49 Mario Pirastu,51 J. Wouter Jukema,52,104,119,120 Nicole M. Probst-Hensch,53,118 Florian Kronenberg,54 Daniela Toniolo,55,128 Vilmundur Gudnason,27,28 Alan R. Shuldiner,29,105 Josef Coresh,4,106 Reinhold Schmidt,59 Luigi Ferrucci,31 Cornelia M. van Duijn,24,25,127 Ingrid Borecki,18 Sharon L.R. Kardia,107 Yongmei Liu,33 Gary C. Curhan,108 Igor Rudan,69 Ulf Gyllensten,35 James F. Wilson,69 Andre Franke,74 Peter P. Pramstaller,7 Rainer Rettig,109 Inga Prokopenko,82,123 Jacqueline Witteman,38 Caroline Hayward,86 Paul M Ridker,9,10,110 Murielle Bochud, 111 Iris M. Heid, 112,113 David S. Siscovick,32§ Caroline S. Fox,5,114§ W. Linda Kao,4,106§ Carsten A. Böger115§ §Writing%2FWorking group/titolo:Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function and CKD/doi:10.1681%2FASN.2012100983/rivista:Journal of the American Society of Nephrology (Online)/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume

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 respon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::166a87e97e4338bd236b63248020929a
https://doi.org/10.1681/asn.2012100983