دورية أكاديمية
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
| العنوان: | Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. |
|---|---|
| المؤلفون: | Tin, Adrienne, Marten, Jonathan, Halperin Kuhns, Victoria L, Li, Yong, Wuttke, Matthias, Kirsten, Holger, Sieber, Karsten B, Qiu, Chengxiang, Gorski, Mathias, Yu, Zhi, Giri, Ayush, Sveinbjornsson, Gardar, Li, Man, Chu, Audrey Y, Hoppmann, Anselm, O'Connor, Luke J, Prins, Bram, Nutile, Teresa, Noce, Damia, Akiyama, Masato, Cocca, Massimiliano, Ghasemi, Sahar, van der Most, Peter J, Horn, Katrin, Xu, Yizhe, Fuchsberger, Christian, Sedaghat, Sanaz, Afaq, Saima, Amin, Najaf, Ärnlöv, Johan, Bakker, Stephan J L, Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L, Biino, Ginevra, Boerwinkle, Eric, Bottinger, Erwin P, Boutin, Thibaud S, Brumat, Marco, Burkhardt, Ralph, Campana, Eric, Campbell, Archie, Campbell, Harry, Carroll, Robert J, Catamo, Eulalia, Chambers, John C, Ciullo, Marina, Concas, Maria Pina, Coresh, Josef, Corre, Tanguy, Cusi, Daniele, Felicita, Sala Cinzia, de Borst, Martin H, De Grandi, Alessandro, de Mutsert, Renée, de Vries, Aiko P J, Delgado, Graciela, Demirkan, Ayşe, Devuyst, Olivier, Dittrich, Katalin, Eckardt, Kai-Uwe, Ehret, Georg, Endlich, Karlhans, Evans, Michele K, Gansevoort, Ron T, Gasparini, Paolo, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Gögele, Martin, Gordon, Scott D, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Haller, Toomas, Hamet, Pavel, Harris, Tamara B, Hayward, Caroline, Hicks, Andrew A, Hofer, Edith, Holm, Hilma, Huang, Wei, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Ikram, M Arfan, Lewis, Raychel M, Ingelsson, Erik, Jakobsdottir, Johanna, Jonsdottir, Ingileif, Jonsson, Helgi, Joshi, Peter K, Josyula, Navya Shilpa, Jung, Bettina, Kähönen, Mika, Kamatani, Yoichiro, Kanai, Masahiro, Kerr, Shona M, Kiess, Wieland, Kleber, Marcus E, Koenig, Wolfgang, Kooner, Jaspal S, Körner, Antje, Kovacs, Peter, Krämer, Bernhard K, Kronenberg, Florian, Kubo, Michiaki, Kühnel, Brigitte, La Bianca, Martina, Lange, Leslie A, Lehne, Benjamin, Lehtimäki, Terho, Liu, Jun, Loeffler, Markus, Loos, Ruth J F, Lyytikäinen, Leo-Pekka, Magi, Reedik, Mahajan, Anubha, Martin, Nicholas G, März, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Milaneschi, Yuri, O'Donnell, Christopher J, Wilson, Otis D, Gaziano, J Michael, Mishra, Pashupati P, Mohlke, Karen L, Mononen, Nina, Montgomery, Grant W, Mook-Kanamori, Dennis O, Müller-Nurasyid, Martina, Nadkarni, Girish N, Nalls, Mike A, Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M, Noordam, Raymond, O'Connell, Jeffrey R, Olafsson, Isleifur, Padmanabhan, Sandosh, Penninx, Brenda W J H, Perls, Thomas, Peters, Annette, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Polasek, Ozren, Ponte, Belen, Porteous, David J, Poulain, Tanja, Preuss, Michael H, Rabelink, Ton J, Raffield, Laura M, Raitakari, Olli T, Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M, Rizzi, Federica, Robino, Antonietta, Rudan, Igor, Krajcoviechova, Alena, Cifkova, Renata, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A, Saba, Yasaman, Salvi, Erika, Schmidt, Helena, Schmidt, Reinhold, Shaffer, Christian M, Smith, Albert V, Smith, Blair H, Spracklen, Cassandra N, Strauch, Konstantin, Stumvoll, Michael, Sulem, Patrick, Tajuddin, Salman M, Teren, Andrej, Thiery, Joachim, Thio, Chris H L, Thorsteinsdottir, Unnur, Toniolo, Daniela, Tönjes, Anke, Tremblay, Johanne, Uitterlinden, André G, Vaccargiu, Simona, van der Harst, Pim, van Duijn, Cornelia M, Verweij, Niek, Völker, Uwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Whitfield, John B, Wild, Sarah H, Wilson, James F, Yang, Qiong, Zhang, Weihua, Zonderman, Alan B, Bochud, Murielle, Wilson, James G, Pendergrass, Sarah A, Ho, Kevin, Parsa, Afshin, Pramstaller, Peter P, Psaty, Bruce M, Böger, Carsten A, Snieder, Harold, Butterworth, Adam S, Okada, Yukinori, Edwards, Todd L, Stefansson, Kari, Susztak, Katalin, Scholz, Markus, Heid, Iris M, Hung, Adriana M, Teumer, Alexander, Pattaro, Cristian, Woodward, Owen M, Vitart, Veronique, Köttgen, Anna |
| المساهمون: | 1 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. atin1@jhu.edu. 2 Welch Centre for Prevention, Epidemiology and Clinical Research, Baltimore, MD, USA. atin1@jhu.edu. 3 Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. 4 Department of Physiology, University of Maryland School of Medicine, Baltimore, MD, USA. 5 Institute of Genetic Epidemiology, Department of Biometry, Epidemiology and Medical Bioinformatics, Faculty of Medicine and Medical Center-University of Freiburg, Freiburg, Germany. 6 Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany. 7 LIFE Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany. 8 Target Sciences-Genetics, GlaxoSmithKline, Collegeville, PA, USA. 9 Department of Medicine and Genetics, University of Pennsylvania, Philadelphia, PA, USA. 10 Department of Nephrology, University Hospital Regensburg, Regensburg, Germany. 11 Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany. 12 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. 13 Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. 14 Division of Quantitative Sciences, Department of Obstetrics & Gynecology, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Institute for Medicine and Public Health, Vanderbilt University Medical Center, Nashville, TN, USA. 15 Biomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA. 16 deCODE Genetics, Amgen Inc., Reykjavik, Iceland. 17 Department of Medicine, Division of Nephrology and Hypertension, University of Utah, Salt Lake City, UT, USA. 18 Genetics, Merck & Co., Inc, Kenilworth, NJ, USA. 19 Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA. 20 Strangeways Research Laboratory, University of Cambridge, Cambridge, UK. 21 Institute of Genetics and Biophysics Adriano Buzzati-Traverso-CNR, Naples, Italy. 22 Eurac Research, Institute for Biomedicine, Bolzano, Italy. 23 Laboratory for Statistical Analysis, RIKEN Centre for Integrative Medical Sciences, Yokohama (Kanagawa), Japan. 24 Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. 25 Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy. 26 Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany. 27 DZHK (German Center for Cardiovascular Research), Partner Site Greifswald, Greifswald, Germany. 28 Department of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. 29 Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. 30 Department of Epidemiology and Biostatistics, Faculty of Medicine, School of Public Health, Imperial College London, London, UK. 31 Institute of Public Health & Social Sciences, Khyber Medical University, Peshawar, Pakistan. 32 Department of Neurobiology, Care Sciences and Society, Division of Family Medicine and Primary Care, Karolinska Institutet, Stockholm, Sweden. 33 School of Health and Social Studies, Dalarna University, Falun, Sweden. 34 Department of Internal Medicine, Division of Nephrology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. 35 Division of Nephrology, University of Washington, Seattle, WA, USA. 36 Kidney Research Institute, University of Washington, Seattle, WA, USA. 37 Cardiology, Geneva University Hospitals, Geneva, Switzerland. 38 Department of Computational Biology, University of Lausanne, Lausanne, Switzerland. 39 Swiss Institute of Bioinformatics, Lausanne, Switzerland. 40 Department of Integrative Biomedical Sciences, University of Cape Town, Cape Town, South Africa. 41 Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA. 42 Department of Biostatistics, University of Washington, Seattle, WA, USA. 43 Institute of Molecular Genetics, National Research Council of Italy, Pavia, Italy. 44 Human Genetics Centre, University of Texas Health Science Centre, Houston, TX, USA. 45 Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 46 University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy. 47 Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig, Leipzig, Germany. 48 Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Regensburg, Germany. 49 Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK. 50 Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK. 51 Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA. 52 Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore. 53 Department of Cardiology, Ealing Hospital, London, UK. 54 Imperial College Healthcare NHS Trust, Imperial College London, London, UK. 55 MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, UK. 56 IRCCS Neuromed, Pozzilli, Italy. 57 Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland. 58 Institute of Biomedical Technologies, Italy National Research Council, Milano, Italy. 59 Bio4Dreams, Milano, Italy. 60 San Raffaele Research Institute, Milano, Italy. 61 Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands. 62 Section of Nephrology, Department of Internal Medicine, Leiden University Medical Centre, Leiden, the Netherlands. 63 Fifth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany. 64 Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands. 65 Institute of Physiology, University of Zurich, Zurich, Switzerland. 66 Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany. 67 Centre for Pediatric Research, University of Leipzig, Leipzig, Germany. 68 Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany. 69 Department of Nephrology and Hypertension, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany. 70 Department of Anatomy and Cell Biology, University Medicine Greifswald, Greifswald, Germany. 71 Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Baltimore, MD, USA. 72 Department of Public Health and Caring Sciences, Molecular Geriatrics, Uppsala University, Uppsala, Sweden. 73 Research Unit of Molecular Epidemiology, Helmholtz Zentrum München-German Research Centre for Environmental Health, Neuherberg, Germany. 74 Institute of Epidemiology, Helmholtz Zentrum München-German Research Centre for Environmental Health, Neuherberg, Germany. 75 German Center for Diabetes Research, Neuherberg, Germany. 76 QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. 77 Icelandic Heart Association, Kópavogur, Iceland. 78 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 79 Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia. 80 Montreal University Hospital Research Centre, Centre Hospitalier de lUniversité de Montréal, Montreal, Quebec, Canada. 81 Medpharmgene, Montreal, Quebec, Canada. 82 Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA. 83 Clinical Division of Neurogeriatrics, Department of Neurology, Medical University of Graz, Graz, Austria. 84 Institute for Medical Informatics, Statistics and Documentation, Medical University of Graz, Graz, Austria. 85 Department of Genetics, Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Centre, Shanghai, China. 86 Shanghai Industrial Technology Institute, Shanghai, China. 87 Department of Clinical Chemistry, Fimlab Laboratories, and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. 88 Department of Pediatrics, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. 89 National Heart, Lung, and Blood Institute Framingham Heart Study, Framingham, MA, USA. 90 The Centre for Population Studies, National Heart, Lung, and Blood Institute, Framingham, MA, USA. 91 Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA. 92 Stanford Cardiovascular Institute, Stanford University, Stanford, CA, USA. 93 Molecular Epidemiology and Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden. 94 Stanford Diabetes Research Center, Stanford University, Stanford, CA, USA. 95 The Centre of Public Health Sciences, University of Iceland, Reykjavik, Iceland. 96 Landspitalinn University Hospital, Reykjavík, Iceland. 97 University of Iceland, Reykjavík, Iceland. 98 Geisinger Research, Biomedical and Translational Informatics Institute, Rockville, MD, USA. 99 Department of Clinical Physiology, Tampere University Hospital, and Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. 100 Kyoto-McGill International Collaborative School in Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan. 101 Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. 102 Deutsches Herzzentrum München, Technische Universität München, Munich, Germany. 103 German Centre for Cardiovascular Research, Partner Site Munich Heart Alliance, Munich, Germany. 104 Institute of Epidemiology and Biostatistics, University of Ulm, Ulm, Germany. 105 MRC-PHE Centre for Environment and Health, 323 School of Public Health, Imperial College London, London, UK. 106 National Heart and Lung Institute, Imperial College London, London, UK. 107 Integrated Research and Treatment Centre Adiposity Diseases, University of Leipzig, Leipzig, Germany. 108 Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria. 109 RIKEN Centre for Integrative Medical Sciences, Yokohama (Kanagawa), Japan. 110 Division of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado Denver-Anschutz Medical Campus, Aurora, CO, USA. 111 Nuffield Department of Population Health, University of Oxford, Oxford, UK. 112 The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 113 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 114 Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. 115 Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK. 116 Synlab Academy, Synlab Holding Deutschland GmbH, Mannheim, Germany. 117 Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria. 118 Laboratory of Clinical Genome Sequencing, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan. 119 Independent Research Group Clinical Epidemiology, Helmholtz Zentrum München, German Research Centre for Environmental Health, Neuherberg, Germany. 120 Ludwig-Maximilians-Universität München at UNIKA-T Augsburg, Augsburg, Germany. 121 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany. 122 Institute of Human Genetics, Technische Universität München, Munich, Germany. 123 Department of Psychiatry, Amsterdam Neuroscience and Amsterdam Public Health Research Institute, Amsterdam University Medical Centers, Amsterdam, the Netherlands. 124 VA Boston Healthcare System, Boston, MA, USA. 125 Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. 126 Vanderbilt University Medical Centre, Division of Nephrology & Hypertension, Nashville, TN, USA. 127 Massachusetts Veterans Epidemiology Research and Information Center, VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA. 128 Department of Genetics, University of North Carolina, Chapel Hill, NC, USA. 129 University of Queensland, St Lucia, Queensland, Australia. 130 Department of Public Health and Primary Care, Leiden University Medical Centre, Leiden, the Netherlands. 131 Institute of Genetic Epidemiology, Helmholtz Zentrum München-German Research Centre for Environmental Health, Neuherberg, Germany. 132 Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU Munich, Munich, Germany. 133 Department of Internal Medicine I (Cardiology), Hospital of the Ludwig-Maximilians-University Munich, Munich, Germany. 134 Division of Nephrology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 135 Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. 136 Data Tecnica International, Glen Echo, MD, USA. 137 Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany. 138 Department of Cardiology, Heart Center, Tampere University Hospital, Tampere, Finland. 139 Department of Cardiology, Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland. 140 Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA. 141 Section of Gerontology and Geriatrics, Department of Internal Medicine, Leiden University Medical Centre, Leiden, the Netherlands. 142 University of Maryland School of Medicine, Baltimore, MD, USA. 143 Department of Clinical Biochemistry, Landspitali University Hospital, Reykjavik, Iceland. 144 Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK. 145 Department of Medicine, Geriatrics Section, Boston Medical Center, Boston University School of Medicine, Boston, MA, USA. 146 Institute of Genetic and Biomedical Research, National Research Council of Italy, UOS of Sassari, Sassari, Italy. 147 Department of Psychiatry, University Hospital of Lausanne, Lausanne, Switzerland. 148 Faculty of Medicine, University of Split, Split, Croatia. 149 Gen-info Ltd, Zagreb, Croatia. 150 Nephrology Service, Department of Specialties in Internal Medicine, University Hospitals of Geneva, Geneva, Switzerland. 151 Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK. 152 Einthoven Laboratory of Experimental Vascular Research, Leiden University Medical Centre, Leiden, the Netherlands. 153 Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, Finland. 154 Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland. 155 Centre for Population Health Research, University of Turku and Turku University Hospital, Turku, Finland. 156 Institute of Physiology, University Medicine Greifswald, Karlsburg, Germany. 157 Department of Health Sciences, University of Milan, Milano, Italy. 158 ePhood Scientific Unit, ePhood SRL, Milano, Italy. 159 Center for Cardiovascular Prevention, First Faculty of Medicine, Charles University and Thomayer Hospital, Prague, Czech Republic. 160 Thomayer Hospital, Prague, Czech Republic. 161 Department of Medicine II, First Faculty of Medicine, Charles University, Prague, Czech Republic. 162 Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, MD, USA. 163 Molecular Biology and Biochemistry, Gottfried Schatz Research Centre for Cell Signaling, Metabolism and Aging, Medical University of Graz, Graz, Austria. 164 Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 165 Institute of Molecular Biology and Biochemistry, Centre for Molecular Medicine, Medical University of Graz, Graz, Austria. 166 Division of Population Health and Genomics, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK. 167 Division of Endocrinology, Nephrology and Rheumatology, University of Leipzig, Leipzig, Germany. 168 Heart Centre Leipzig, Leipzig, Germany. 169 Department of Endocrinology and Nephrology, University of Leipzig, Leipzig, Germany. 170 Centre de Recherche du CHUM, Montreal, Quebec, Canada. 171 Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands. 172 Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. 173 Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. 174 Durrer Centre for Cardiovascular Research, the Netherlands Heart Institute, Utrecht, the Netherlands. 175 Leiden Academic Centre for Drug Research, Leiden University, Leiden, the Netherlands. 176 Genomics plc, Oxford, UK. 177 Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany. 178 Internal Medicine, Department of Medicine, Lausanne University Hospital, Lausanne, Switzerland. 179 Centre for Population Health Sciences, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK. 180 Department of Physiology and Biophysics, University of Mississippi Medical Centre, Jackson, MS, USA. 181 Geisinger Research, Biomedical and Translational Informatics Institute, Danville, PA, USA. 182 Kidney Health Research Institute, Geisinger, Danville, PA, USA. 183 Department of Nephrology, Geisinger, Danville, PA, USA. 184 Division of Kidney, Urologic and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA. 185 Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA. 186 Cardiovascular Health Research Unit, Department of Medicine, Department of Epidemiology, Department of Health Service, University of Washington, Seattle, WA, USA. 187 Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA. 188 Department of Nephrology and Rheumatology, Kliniken Südostbayern AG, Traunstein, Germany. 189 Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. 190 Laboratory for Statistical Analysis, RIKEN Centre for Integrative Medical Sciences, Osaka, Japan. 191 Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan. 192 Division of Epidemiology, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Centre, Nashville, TN, USA. 193 Department of Veterans Affairs, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA. 194 Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. anna.koettgen@uniklinik-freiburg.de. 195 Institute of Genetic Epidemiology, Department of Biometry, Epidemiology and Medical Bioinformatics, Faculty of Medicine and Medical Center-University of Freiburg, Freiburg, Germany. anna.koettgen@uniklinik-freiburg.de. |
| المصدر: | Nature genetics |
| بيانات النشر: | Nature Publishing Group |
| سنة النشر: | 2019 |
| المجموعة: | Hirsla - Landspítali University Hospital research archive |
| مصطلحات موضوعية: | Þvagsýrugigt, Hjartasjúkdómar, Gen, Uric Acid, Gout, Cardiovascular Diseases, Metabolic Diseases, Genome-Wide Association Study |
| الوصف: | To access publisher's full text version of this article click on the hyperlink below ; Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardiometabolic traits. ; Funding AgencyShow details Grant Number American Heart Association German Research Foundation (DFG) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS) Nederlandse Organisatie voor Wetenschappelijk Onderzoek (Netherlands Organisation for Scientific Research) |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | Icelandic |
| تدمد: | 1546-1718 |
| العلاقة: | https://www.nature.com/articles/s41588-019-0504-xTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858555Test/; Tin A, Marten J, Kuhns VL, Li Y, Wuttke M, Kirsten H, Sieber KB, Qiu C, Gorski M, Yu Z, Giri A. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nature Genetics. 2019; 51(10):1459-1474.; http://hdl.handle.net/2336/621176Test; Nature Genetics |
| DOI: | 10.1038/s41588-019-0504-x |
| الإتاحة: | https://doi.org/10.1038/s41588-019-0504-xTest http://hdl.handle.net/2336/621176Test |
| حقوق: | Landspitali Access - LSH-aðgangur |
| رقم الانضمام: | edsbas.3EB387FE |
| قاعدة البيانات: | BASE |
| تدمد: | 15461718 |
|---|---|
| DOI: | 10.1038/s41588-019-0504-x |