Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function and CKD (Articolo in rivista)

Type
Label
  • Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function and CKD (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1681/ASN.2012100983 (literal)
Alternative label
  • 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/Working group (2013)
    Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function and CKD
    in Journal of the American Society of Nephrology (Online)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#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/Working group (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1. University of Maryland School of Medicine, Division of Nephrology, Baltimore, MD, USA. 2. Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI, 48109, USA. 3. Renal Division, Freiburg University Clinic, Germany, Berliner Allee 29, 79110 Freiburg, Germany. 4. Dept. of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe St., Baltimore, MD 21205. 5. NHLBI's Framingham Heart Study and the Center for Population Studies. 6. Division of Nephrology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis St, Boston MA 02115. 7. Centre for Biomedicine, European Academy of Bozen/Bolzano (EURAC), Bolzano, Italy; Affiliated Institute of the University of Lübeck (Germany), Viale Druso, 1 - 39100 Bolzano, Italy. 8. Division of Biomedical Statistics and Informatics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905. 9. Brigham and Women's Hospital, 900 Commonwealth Avenue, East, Boston, MA 02215. 10. Harvard Medical School, Boston, MA 02115. 11. Division of Preventive Medicine, Brigham and Women's Hospital, 900 Commonwealth Avenue, Boston, MA 02215. 12. Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Friedrich-Ludwig-Jahn-Str. 15a, 17487 Greifswald, Germany. 13. Institute of Anatomy and Cell Biology, University of Greifswald, Friedrich-Loeffler-Str. 23c, 17487 Greifswald, Germany. 14. Department of Internal Medicine II, Nephrology, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93042 Regensburg, Germany. 15. Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg , Franz-Josef-Strauß-Allee 11, 93042 Regensburg, Germany. 16. Department of Neurology, Boston University School of Medicine, 72 East Concord ST B603, Boston, MA 02118. 17. Department of Biostatistics, Boston University School of Public Health, 715 Albany St, Boston MA 02118. 18. Division of Statistical Genomics; Washington University School of Medicine, 4444 Forest Park Blvd. - Box 8506; St Louis, MO 63108. 3 19. Department of Epidemiology and Preventive Medicine, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93042 Regensburg, Germany. 20. Department of Internal Medicine II, Nephrology, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93042 Regensburg, Germany. 21. Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118. 22. Renal Division, Freiburg University Clinic, Germany, Berliner Allee 29, 79110 Freiburg, Germany. 23. Section of Preventive Medicine and Epidemiology, Department of Medicine, Boston University School of Medicine, 761 Harrison Ave, Boston, MA 02118. 24. Genetic Epidemiology Unit, Dept. of Epidemiology, Erasmus University Medical Center, Rotterdam, the Netherlands, Dr. Molewaterplein 50, PO Box 2040, 3000CA Rotterdam, the Netherlands. 25. Centre for Medical Systems Biology, Leiden, the Netherlands, Dr. Molewaterplein 50, PO Box 2040, 3000CA Rotterdam, the Netherlands. 26. Division of Nephrology/Tufts Evidence Practice Center, Tufts University School of Medicine, Tufts Medical Center, Boston MA,02111 . 27. Icelandic Heart Association,Research Institute, Holtasmari 1, 201 Kopavogur, Iceland. 28. University of Iceland, Sæmundargötu 2, 101 Reykjavik, Iceland. 29. University of Maryland School of Medicine, Department of Medicine, Baltimore, MD, USA. 30. Department of Epidemiology and Biostatistics,Department of Forensic Molecular Biology, Dr. Molewaterplein 50-603015 GE Rotterdam; The Netherlands. 31. Clinical Research Branch, National Institute of Aging, Baltimore MD, 3001 S Hanover Street, Baltimore MD 21225. 32. University of Washington, 1730 Minor Ave. Campus Box 358080, Seattle, WA 98101-1448, 33. Department of Epidemiology & Prevention, Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, NC 27157. 34. Harvard School of Public Health Department of Nutrition, 665 Huntington Avenue, Building 2, Boston MA, 02115. 35. Uppsala University, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden. 36. Department of Medicine, University of Leipzig, Liebigstr. 18, 04103 Leipzig, Germany. 37. IFB Adiposity Diseases, University of Leipzig, Liebigstr. 18, 04103 Leipzig, Germany. 38. Department of Epidemiology, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands. 4 39. Inserm UMR744, Institut Pasteur, Lille, France. 40. Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, NSW, Australia. 41. Centre for Information-based Medicine, Hunter Medical Research Institute, Newcastle, NSW Australia. 42. Institute of Genetics and Biophysics \"Adriano-Buzzati Traverso\"-CNR, Via P. Castellino 111, 80131 Napoli, Italy. 43. Department of Medical Genetics, University of Lausanne, Rue du Bugnon 27, CH-1005 Lausanne, Switzerland. 44. Swiss Institute of Bioinformatics, Lausanne, Switzerland. 45. Department of Clinical Chemistry, Fimlab Laboratories and School of Medicine, University of Tampere, Tampere, Finland. 46. Estonian Genome Center of University of Tartu (EGCUT), Riia 23b, Tartu, Estonia. 47. Institute of Molecular and Cell Biology, University of Tartu; Riia 23, Tartu, Estonia, Estonian Biocentre, Tartu, Estonia. 48. University of Dundee, Wellcome Trust Centre for Molecular Medicine, Clinical Research Centre, Level 7, Ninewells Hospital, Dundee DD1 9SY. 49. Institute for Maternal and Child Health - IRCCS \"Burlo Garofolo\" - Trieste, University of Trieste, Italy. 50. Division of Preventive Medicine, Brigham and Women's Hospital, 900 Commonwealth Avenue, Boston, MA 02215. 51. Institute of Population Genetics - CNR, Traversa La Crucca, 3 - 07040 Reg. Baldinca - Li Punti - Sassari- Italy. 52. Leiden University Medical Center, Deparment of Cardiology, Postzone C2-R, PO Box 9600, 2300 RC Leiden, the Netherlands. 53. Swiss Tropical and Public Health Institute, Socinstrasse 57, P.O.Box, 4002 Basel, Switzerland. 54. Innsbruck Medical University, Division of Genetic Epidemiology, Schoepfstraße 41, 6020 Innsbruck, Austria. 55. Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy. 56. Laboratory of Epidemiology, Demography, and Biometry, NIA, Gateway Building, 3C309, 7201 Wisconsin Ave, Bethesda MD 20892-9205. 57. Human Genetics Center, University of Texas Health Science Center, Houston, TX, 1200 Herman Pressler Drive, Houston, TX 77030. 58. Austrian Stroke Prevention Study, Institute of Molecular Biology and Biochemistry and Department of Neurology, Medical University Graz, Harrachgasse 21 8010 Graz , Austria. 5 59. Austrian Stroke Prevention Study, University Clinic of Neurology,Department of Neurology, Clinical Division of Neurogeriatrics, Medical University Graz, Auenbruggerplatz 22, 8036 Graz, Austria. 60. Dept. of Internal Medicine, Division of Nephrology and Hypertension, Mayo Clinic , 200 First Street SW, Rochester, MN 55905. 61. Wake Forest School of Medicine, Department of Internal Medicine/Geriatrics, Medical center Blvd, Winston-Salem, NC 27157. 62. Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston-Salem, NC 27157. 63. Wake Forest School of Medicine, Internal Medicine/Nephrology, Wake Forest School of Medicine, Winston-Salem, NC 27157. 64. Division of Preventive Medicine, Brigham and Women's Hospital, 900 Commonwealth Avenue, Boston, MA 02215. 65. Abteilung Innere II, Universitätsklinikum Ulm, Albert-Einstein-Allee 23, 89081 Ulm. 66. Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany. 67. Institute of Medical Informatics, Biometry and Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany. 68. Klinikum Grosshadern, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany. 69. Center for Population Health Sciences, the University of Edinburgh Medical School, UK, Teviot Place, Edinburgh, EH8 9AG, Scotland. 70. Croatian Centre for Global Health, University of Split Medical School, Split, Croatia. 71. Department of Genetics, Stanford University, Stanford, CA, 94305, USA. 72. Department of Medicine, University of Chicago, Chicago, IL, 60637, USA. 73. MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland. 74. Institute of Clinical Molecular Biology, Christian-Albrechts University, Schittenhelmstr.12, 24105 Kiel, Germany. 75. popgen Biobank, University Hospital Schleswig-Holstein, Niemannsweg 11, 24105 Kiel, Germany. 76. Clinic for Prosthodontic Dentistry, Gerostomatology and Material Science, University of Greifswald, Rotgerberstr 8, 17475 Greifswald, Germany. 77. Institute of Pharmacology, University of Greifswald, e Felix-Hausdorff-Strasse 3, 17487 Greifswald, Germany. 78. Institute of Clinical Chemistry and Laboratory Medicine, University ofGreifswald, Ferdinand-Sauerbruch-Str., 17475 Greifswald, Germany. 6 79. Clinic for Internal Medicine A, University of Greifswald, Ferdinand-Sauerbruch-Str., 17475 Greifswald, Germany. 80. Institute for Community Medicine, University of Greifswald, Walther-Rathenau-Str. 48, 17487 Greifswald, Germany. 81. Department of Medicine, University of Leipzig, Liebigstr. 18, 04103 Leipzig, Germany. 82. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK. 83. Estonian Genome Center of University of Tartu (EGCUT), Riia 23b, Tartu, Estonia. 84. Department of internal medicine, Erasmus Medical Center, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. 85. Croatian Centre for Global Health, Faculty of Medicine, University of Split, Soltanska 2, Split, Croatia. 86. MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland. 87. INSERM U897, Université Victor Ségalen Bordeaux 2, ISPED,Bordeaux,France. 88. Université Bordeaux 2 Victor Segalen, 89. Centre for Vision Research, University of Sydney, Westmead Millennium Institute, Westmead Hospital, NSW 2145 Australia. 90. Centre for Eye Research Australia (CERA), University of Melbourne, 32 Gisborne Street, East Melbourne , Vic 3002 Australia. 91. Inserm UMRS 1018, CESP Team 10, Villejuif, France. 92. Department of Clinical Physiology, Tampere University Hospital and School of Medicine University of Tampere, Tampere, Finland. 93. Department of Medicine, Turku University Hospital and University of Turku, Turku, Finland. 94. Institute of Molecular and Cell Biology, University of Tartu, Riia 23, Tartu, Estonia, Estonian Biocentre, Tartu, Estonia. 95. NHS Tayside, Wellcome Trust Centre for Molecular Medicine, Clinical Research Centre, Level 7, Ninewells Hospital, Dundee DD1 9SY. 96. University Medical Centre Mannheim, 5th Department of Medicine, Theodor Kutzer Ufer 1-3, 68167, Mannheim, Germany. 97. University of Glasgow, Robertson Centre for Biostatistics, United Kingdom 98. University College Cork, Department of Pharmacology and Therapeutics , Ireland 99. First Department of Internal Medicine, Paracelsus Medical University, Salzburg, Austria, Universitätsklinik für Innere Medizin I, Müllner Hauptstraße 48, 5020 Salzburg. 100. Innsbruck Medical University, Division of Genetic Epidemiology, Schoepfstraße 41, 6020 Innsbruck, Austria. 7 101. Department of Internal Medicine, Centre Hospitalier Universitaire Vaudois and University of Lausanne, 1011 Lausanne, Switzerland. 102. Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku. Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, FINLAND. 103. University of Dundee, Biomedical Research Institute, Level 5, Ninewells Hospital and Medical School. 104. Interuniversity Cardiology Institute of the Netherlands (ICIN), Utrecht, The Netherlands; 105. Geriatric Research and Education Clinical Center, Veterans Administration Medical Center, Baltimore MD, USA. 106. Welch Center for Prevention, Epidemiology and Clinical Research, 2024 E Monument St,Suite 2-600,Baltimore,MD 21287. 107. University of Michigan School of Public Health, University of Michigan Department of Epidemiology, 109 Observatory, #4605 , Ann Arbor, MI 48109-2029 . 108. Brigham and Women's Hospital and Channing Laboratory, Harvard Medical School, 181 Longwood Avenue, Boston, MA 02115. 109. Institute of Physiology, Greifswalder-Strasse 11c, University of Greifswald, 17495 Karlsburg, Germany. 110. Division of Preventive Medicine, Brigham and Women's Hospital, 900 Commonwealth Avenue, Boston, MA 02215. 111. University Institute of Social and Preventive Medicine, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Route de la Corniche 10, CH-1010 Lausanne, Switzerland. 112. Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93042 Regensburg, Germany. 113. Institute of Genetic Epidemiology, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany. 114. Division of Endocrinology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA. 115. Department of Internal Medicine II, Nephrology, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93042 Regensburg, Germany. 116. Hannover Unified Biobank, Hannover Medical School, Carl-Neuberg-Straße 1, 30625 Hannover, Germany. 117. Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany. 118. University of Basel, Petersplatz 1, 4003 Basel, Switzerland 119. Einthoven Laboratory for Experimental Vascular Medicine, Leiden, The Netherlands 8 120. Durrer Center for Cardiogenetic Research, Amsterdam, The Netherlands. 121. Institute for Epidemiology, University of Kiel, Kiel, Germany 122. Department of Nutrition and Food Sciences, University of Bonn, Bonn, Germany 123. Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, UK, OX3 7LJ. 124. UMRS 1018, Univ Paris Sud, Villejuif, France 125. Genomics Resource Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Korea. 126. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands. 127. Member of Netherlands Consortium for Healthy Aging sponsored by Netherlands Genomics Initiative, Leiden, the Netherlands. 128. Institute of Molecular Genetics, CNR, Pavia, Italy (literal)
Titolo
  • Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function and CKD (literal)
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. (literal)
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