{"entity": "publication", "iuid": "9c85b04495334bb0817ec3e19a5e0aee", "timestamp": "2026-04-14T09:00:30.989Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9c85b04495334bb0817ec3e19a5e0aee.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9c85b04495334bb0817ec3e19a5e0aee"}}, "title": "Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.", "authors": [{"family": "Tin", "given": "Adrienne", "initials": "A"}, {"family": "Marten", "given": "Jonathan", "initials": "J"}, {"family": "Halperin Kuhns", "given": "Victoria L", "initials": "VL"}, {"family": "Li", "given": "Yong", "initials": "Y"}, {"family": "Wuttke", "given": "Matthias", "initials": "M"}, {"family": "Kirsten", "given": "Holger", "initials": "H"}, {"family": "Sieber", "given": "Karsten B", "initials": "KB"}, {"family": "Qiu", "given": "Chengxiang", "initials": "C"}, {"family": "Gorski", "given": "Mathias", "initials": "M"}, {"family": "Yu", "given": "Zhi", "initials": "Z"}, {"family": "Giri", "given": "Ayush", "initials": "A"}, {"family": "Sveinbjornsson", "given": "Gardar", "initials": "G"}, {"family": "Li", "given": "Man", "initials": "M"}, {"family": "Chu", "given": "Audrey Y", "initials": "AY"}, {"family": "Hoppmann", "given": "Anselm", "initials": "A"}, {"family": "O'Connor", "given": "Luke J", "initials": "LJ"}, {"family": "Prins", "given": "Bram", "initials": "B"}, {"family": "Nutile", "given": "Teresa", "initials": "T"}, {"family": "Noce", "given": "Damia", "initials": "D"}, {"family": "Akiyama", "given": "Masato", "initials": "M"}, {"family": "Cocca", "given": "Massimiliano", "initials": "M"}, {"family": "Ghasemi", "given": "Sahar", "initials": "S"}, {"family": "van der Most", "given": "Peter J", "initials": "PJ"}, {"family": "Horn", "given": "Katrin", "initials": "K"}, {"family": "Xu", "given": "Yizhe", "initials": "Y"}, {"family": "Fuchsberger", "given": "Christian", "initials": "C"}, {"family": "Sedaghat", "given": "Sanaz", "initials": "S"}, {"family": "Afaq", "given": "Saima", "initials": "S"}, {"family": "Amin", "given": "Najaf", "initials": "N"}, {"family": "\u00c4rnl\u00f6v", "given": "Johan", "initials": "J"}, {"family": "Bakker", "given": "Stephan J L", "initials": "SJL"}, {"family": "Bansal", "given": "Nisha", "initials": "N"}, {"family": "Baptista", "given": "Daniela", "initials": "D"}, {"family": "Bergmann", "given": "Sven", "initials": "S"}, {"family": "Biggs", "given": "Mary L", "initials": "ML"}, {"family": "Biino", "given": "Ginevra", "initials": "G"}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Bottinger", "given": "Erwin P", "initials": "EP"}, {"family": "Boutin", "given": "Thibaud S", "initials": "TS"}, {"family": "Brumat", "given": "Marco", "initials": "M"}, {"family": "Burkhardt", "given": "Ralph", "initials": "R"}, {"family": "Campana", "given": "Eric", "initials": "E"}, {"family": "Campbell", "given": "Archie", "initials": "A"}, {"family": "Campbell", "given": "Harry", "initials": "H"}, {"family": "Carroll", "given": "Robert J", "initials": "RJ"}, {"family": "Catamo", "given": "Eulalia", "initials": "E"}, {"family": "Chambers", "given": "John C", "initials": "JC"}, {"family": "Ciullo", "given": "Marina", "initials": "M"}, {"family": "Concas", "given": "Maria Pina", "initials": "MP"}, {"family": "Coresh", "given": "Josef", "initials": "J"}, {"family": "Corre", "given": "Tanguy", "initials": "T"}, {"family": "Cusi", "given": "Daniele", "initials": "D"}, {"family": "Felicita", "given": "Sala Cinzia", "initials": "SC"}, {"family": "de Borst", "given": "Martin H", "initials": "MH"}, {"family": "De Grandi", "given": "Alessandro", "initials": "A"}, {"family": "de Mutsert", "given": "Ren\u00e9e", "initials": "R"}, {"family": "de Vries", "given": "Aiko P J", "initials": "APJ"}, {"family": "Delgado", "given": "Graciela", "initials": "G"}, {"family": "Demirkan", "given": "Ay\u015fe", "initials": "A"}, {"family": "Devuyst", "given": "Olivier", "initials": "O"}, {"family": "Dittrich", "given": "Katalin", "initials": "K"}, {"family": "Eckardt", "given": "Kai-Uwe", "initials": "KU"}, {"family": "Ehret", "given": "Georg", "initials": "G"}, {"family": "Endlich", "given": "Karlhans", "initials": "K"}, {"family": "Evans", "given": "Michele K", "initials": "MK"}, {"family": "Gansevoort", "given": "Ron T", "initials": "RT"}, {"family": "Gasparini", "given": "Paolo", "initials": "P"}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V"}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Girotto", "given": "Giorgia", "initials": "G"}, {"family": "G\u00f6gele", "given": "Martin", "initials": "M"}, {"family": "Gordon", "given": "Scott D", "initials": "SD"}, {"family": "Gudbjartsson", "given": "Daniel F", "initials": "DF"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V"}, {"family": "German Chronic Kidney Disease Study", "given": "", "initials": ""}, {"family": "Haller", "given": "Toomas", "initials": "T"}, {"family": "Hamet", "given": "Pavel", "initials": "P"}, {"family": "Harris", "given": "Tamara B", "initials": "TB"}, {"family": "Hayward", "given": "Caroline", "initials": "C"}, {"family": "Hicks", "given": "Andrew A", "initials": "AA"}, {"family": "Hofer", "given": "Edith", "initials": "E"}, {"family": "Holm", "given": "Hilma", "initials": "H"}, {"family": "Huang", "given": "Wei", "initials": "W"}, {"family": "Hutri-K\u00e4h\u00f6nen", "given": "Nina", "initials": "N"}, {"family": "Hwang", "given": "Shih-Jen", "initials": "SJ"}, {"family": "Ikram", "given": "M Arfan", "initials": "MA"}, {"family": "Lewis", "given": "Raychel M", "initials": "RM"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Jakobsdottir", "given": "Johanna", "initials": "J"}, {"family": "Jonsdottir", "given": "Ingileif", "initials": "I"}, {"family": "Jonsson", "given": "Helgi", "initials": "H"}, {"family": "Joshi", "given": "Peter K", "initials": "PK"}, {"family": "Josyula", "given": "Navya Shilpa", "initials": "NS"}, {"family": "Jung", "given": "Bettina", "initials": "B"}, {"family": "K\u00e4h\u00f6nen", "given": "Mika", "initials": "M"}, {"family": "Kamatani", "given": "Yoichiro", "initials": "Y"}, {"family": "Kanai", "given": "Masahiro", "initials": "M"}, {"family": "Kerr", "given": "Shona M", "initials": "SM"}, {"family": "Kiess", "given": "Wieland", "initials": "W"}, {"family": "Kleber", "given": "Marcus E", "initials": "ME"}, {"family": "Koenig", "given": "Wolfgang", "initials": "W"}, {"family": "Kooner", "given": "Jaspal S", "initials": "JS"}, {"family": "K\u00f6rner", "given": "Antje", "initials": "A"}, {"family": "Kovacs", "given": "Peter", "initials": "P"}, {"family": "Kr\u00e4mer", "given": "Bernhard K", "initials": "BK"}, {"family": "Kronenberg", "given": "Florian", "initials": "F"}, {"family": "Kubo", "given": "Michiaki", "initials": "M"}, {"family": "K\u00fchnel", "given": "Brigitte", "initials": "B"}, {"family": "La Bianca", "given": "Martina", "initials": "M"}, {"family": "Lange", "given": "Leslie A", "initials": "LA"}, {"family": "Lehne", "given": "Benjamin", "initials": "B"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T"}, {"family": "Lifelines Cohort Study", "given": "", "initials": ""}, {"family": "Liu", "given": "Jun", "initials": "J"}, {"family": "Loeffler", "given": "Markus", "initials": "M"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}, {"family": "Lyytik\u00e4inen", "given": "Leo-Pekka", "initials": "LP"}, {"family": "Magi", "given": "Reedik", "initials": "R"}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG"}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Mascalzoni", "given": "Deborah", "initials": "D"}, {"family": "Matsuda", "given": "Koichi", "initials": "K"}, {"family": "Meisinger", "given": "Christa", "initials": "C"}, {"family": "Meitinger", "given": "Thomas", "initials": "T"}, {"family": "Metspalu", "given": "Andres", "initials": "A"}, {"family": "Milaneschi", "given": "Yuri", "initials": "Y"}, {"family": "V. A. Million Veteran Program", "given": "", "initials": ""}, {"family": "O'Donnell", "given": "Christopher J", "initials": "CJ"}, {"family": "Wilson", "given": "Otis D", "initials": "OD"}, {"family": "Gaziano", "given": "J Michael", "initials": "JM"}, {"family": "Mishra", "given": "Pashupati P", "initials": "PP"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL"}, {"family": "Mononen", "given": "Nina", "initials": "N"}, {"family": "Montgomery", "given": "Grant W", "initials": "GW"}, {"family": "Mook-Kanamori", "given": "Dennis O", "initials": "DO"}, {"family": "M\u00fcller-Nurasyid", "given": "Martina", "initials": "M"}, {"family": "Nadkarni", "given": "Girish N", "initials": "GN"}, {"family": "Nalls", "given": "Mike A", "initials": "MA"}, {"family": "Nauck", "given": "Matthias", "initials": "M"}, {"family": "Nikus", "given": "Kjell", "initials": "K"}, {"family": "Ning", "given": "Boting", "initials": "B"}, {"family": "Nolte", "given": "Ilja M", "initials": "IM"}, {"family": "Noordam", "given": "Raymond", "initials": "R"}, {"family": "O'Connell", "given": "Jeffrey R", "initials": "JR"}, {"family": "Olafsson", "given": "Isleifur", "initials": "I"}, {"family": "Padmanabhan", "given": "Sandosh", "initials": "S"}, {"family": "Penninx", "given": "Brenda W J H", "initials": "BWJH"}, {"family": "Perls", "given": "Thomas", "initials": "T"}, {"family": "Peters", "given": "Annette", "initials": "A"}, {"family": "Pirastu", "given": "Mario", "initials": "M"}, {"family": "Pirastu", "given": "Nicola", "initials": "N"}, {"family": "Pistis", "given": "Giorgio", "initials": "G"}, {"family": "Polasek", "given": "Ozren", "initials": "O"}, {"family": "Ponte", "given": "Belen", "initials": "B"}, {"family": "Porteous", "given": "David J", "initials": "DJ"}, {"family": "Poulain", "given": "Tanja", "initials": "T"}, {"family": "Preuss", "given": "Michael H", "initials": "MH"}, {"family": "Rabelink", "given": "Ton J", "initials": "TJ"}, {"family": "Raffield", "given": "Laura M", "initials": "LM"}, {"family": "Raitakari", "given": "Olli T", "initials": "OT"}, {"family": "Rettig", "given": "Rainer", "initials": "R"}, {"family": "Rheinberger", "given": "Myriam", "initials": "M"}, {"family": "Rice", "given": "Kenneth M", "initials": "KM"}, {"family": "Rizzi", "given": "Federica", "initials": "F"}, {"family": "Robino", "given": "Antonietta", "initials": "A"}, {"family": "Rudan", "given": "Igor", "initials": "I"}, {"family": "Krajcoviechova", "given": "Alena", "initials": "A"}, {"family": "Cifkova", "given": "Renata", "initials": "R"}, {"family": "Rueedi", "given": "Rico", "initials": "R"}, {"family": "Ruggiero", "given": "Daniela", "initials": "D"}, {"family": "Ryan", "given": "Kathleen A", "initials": "KA"}, {"family": "Saba", "given": "Yasaman", "initials": "Y"}, {"family": "Salvi", "given": "Erika", "initials": "E"}, {"family": "Schmidt", "given": "Helena", "initials": "H"}, {"family": "Schmidt", "given": "Reinhold", "initials": "R"}, {"family": "Shaffer", "given": "Christian M", "initials": "CM"}, {"family": "Smith", "given": "Albert V", "initials": "AV"}, {"family": "Smith", "given": "Blair H", "initials": "BH"}, {"family": "Spracklen", "given": "Cassandra N", "initials": "CN"}, {"family": "Strauch", "given": "Konstantin", "initials": "K"}, {"family": "Stumvoll", "given": "Michael", "initials": "M"}, {"family": "Sulem", "given": "Patrick", "initials": "P"}, {"family": "Tajuddin", "given": "Salman M", "initials": "SM"}, {"family": "Teren", "given": "Andrej", "initials": "A"}, {"family": "Thiery", "given": "Joachim", "initials": "J"}, {"family": "Thio", "given": "Chris H L", "initials": "CHL"}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Toniolo", "given": "Daniela", "initials": "D"}, {"family": "T\u00f6njes", "given": "Anke", "initials": "A"}, {"family": "Tremblay", "given": "Johanne", "initials": "J"}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG"}, {"family": "Vaccargiu", "given": "Simona", "initials": "S"}, {"family": "van der Harst", "given": "Pim", "initials": "P"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Verweij", "given": "Niek", "initials": "N"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U"}, {"family": "Vollenweider", "given": "Peter", "initials": "P"}, {"family": "Waeber", "given": "Gerard", "initials": "G"}, {"family": "Waldenberger", "given": "Melanie", "initials": "M"}, {"family": "Whitfield", "given": "John B", "initials": "JB"}, {"family": "Wild", "given": "Sarah H", "initials": "SH"}, {"family": "Wilson", "given": "James F", "initials": "JF"}, {"family": "Yang", "given": "Qiong", "initials": "Q"}, {"family": "Zhang", "given": "Weihua", "initials": "W"}, {"family": "Zonderman", "given": "Alan B", "initials": "AB"}, {"family": "Bochud", "given": "Murielle", "initials": "M"}, {"family": "Wilson", "given": "James G", "initials": "JG"}, {"family": "Pendergrass", "given": "Sarah A", "initials": "SA"}, {"family": "Ho", "given": "Kevin", "initials": "K"}, {"family": "Parsa", "given": "Afshin", "initials": "A"}, {"family": "Pramstaller", "given": "Peter P", "initials": "PP"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "B\u00f6ger", "given": "Carsten A", "initials": "CA"}, {"family": "Snieder", "given": "Harold", "initials": "H"}, {"family": "Butterworth", "given": "Adam S", "initials": "AS"}, {"family": "Okada", "given": "Yukinori", "initials": "Y"}, {"family": "Edwards", "given": "Todd L", "initials": "TL"}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Susztak", "given": "Katalin", "initials": "K"}, {"family": "Scholz", "given": "Markus", "initials": "M"}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Hung", "given": "Adriana M", "initials": "AM"}, {"family": "Teumer", "given": "Alexander", "initials": "A"}, {"family": "Pattaro", "given": "Cristian", "initials": "C"}, {"family": "Woodward", "given": "Owen M", "initials": "OM"}, {"family": "Vitart", "given": "Veronique", "initials": "V"}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A"}], "type": "journal article", "published": "2019-10-02", "journal": {"volume": null, "issn": "1546-1718", "issue": null, "title": "Nat. Genet.", "issn-l": "1061-4036"}, "abstract": "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.", "doi": "10.1038/s41588-019-0504-x", "pmid": "31578528", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41588-019-0504-x"}], "notes": [], "created": "2019-10-08T08:43:46.521Z", "modified": "2020-01-21T13:56:14.626Z"}