{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T17:49:17Z","timestamp":1789148957779,"version":"build-2803163510"},"reference-count":80,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T00:00:00Z","timestamp":1580083200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"UK Biobank Resource","award":["12611"],"award-info":[{"award-number":["12611"]}]},{"DOI":"10.13039\/501100001505","name":"The Health Research Council of New Zealand","doi-asserted-by":"crossref","award":["14\/527"],"award-info":[{"award-number":["14\/527"]}],"id":[{"id":"10.13039\/501100001505","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>High serum urate is a prerequisite for gout and associated with metabolic disease. Genome-wide association studies (GWAS) have reported dozens of loci associated with serum urate control; however, there has been little progress in understanding the molecular basis of the associated loci. Here, we employed trans-ancestral meta-analysis using data from European and East Asian populations to identify 10 new loci for serum urate levels. Genome-wide colocalization with cis-expression quantitative trait loci (eQTL) identified a further five new candidate loci. By cis- and trans-eQTL colocalization analysis, we identified 34 and 20 genes, respectively, where the causal eQTL variant has a high likelihood that it is shared with the serum urate-associated locus. One new locus identified was SLC22A9 that encodes organic anion transporter 7 (OAT7). We demonstrate that OAT7 is a very weak urate-butyrate exchanger. Newly implicated genes identified in the eQTL analysis include those encoding proteins that make up the dystrophin complex, a scaffold for signaling proteins and transporters at the cell membrane; MLXIP that, with the previously identified MLXIPL, is a transcription factor that may regulate serum urate via the pentose\u2013phosphate pathway and MRPS7 and IDH2 that encode proteins necessary for mitochondrial function. Functional fine mapping identified six loci (RREB1, INHBC, HLF, UBE2Q2, SFMBT1 and HNF4G) with colocalized eQTL containing putative causal SNPs. This systematic analysis of serum urate GWAS loci identified candidate causal genes at 24 loci and a network of previously unidentified genes likely involved in control of serum urate levels, further illuminating the molecular mechanisms of urate control.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa013","type":"journal-article","created":{"date-parts":[[2020,1,20]],"date-time":"2020-01-20T07:07:22Z","timestamp":1579504042000},"page":"923-943","source":"Crossref","is-referenced-by-count":62,"title":["Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control"],"prefix":"10.1093","volume":"29","author":[{"given":"James","family":"Boocock","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand"},{"name":"Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3199-5277","authenticated-orcid":false,"given":"Megan","family":"Leask","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukinori","family":"Okada","sequence":"first","affiliation":[{"name":"Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan"},{"name":"Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Asian Genetic Epidemiology Network (AGEN) Consortium","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotaka","family":"Matsuo","sequence":"first","affiliation":[{"name":"Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Kawamura","sequence":"first","affiliation":[{"name":"Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongyong","family":"Shi","sequence":"first","affiliation":[{"name":"Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiaric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changgui","family":"Li","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B","family":"Mount","sequence":"first","affiliation":[{"name":"Renal Division, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston MA, USA"},{"name":"Renal Division, VA Boston Healthcare System, Harvard Medical School, Boston MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asim K","family":"Mandal","sequence":"first","affiliation":[{"name":"Renal Division, Brigham and Women\u2019s Hospital, Harvard Medical School, Boston MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiqing","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murray","family":"Cadzow","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna L","family":"Gosling","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya J","family":"Major","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9536-7790","authenticated-orcid":false,"given":"Julia A","family":"Horsfield","sequence":"first","affiliation":[{"name":"Department of Pathology, Otago Medical School, University of Otago, Dunedin, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyon K","family":"Choi","sequence":"first","affiliation":[{"name":"Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayaza","family":"Fadason","sequence":"first","affiliation":[{"name":"Liggins Institute, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2927-450X","authenticated-orcid":false,"given":"Justin","family":"O\u2019Sullivan","sequence":"first","affiliation":[{"name":"Liggins Institute, University of Auckland, Auckland, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eli A","family":"Stahl","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn Institute of Genomics and Multiscale Biology, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0844-8726","authenticated-orcid":false,"given":"Tony R","family":"Merriman","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,1,27]]},"reference":[{"key":"2020041507353334800_ref1","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1038\/nrrheum.2015.91","article-title":"Global epidemiology of gout: prevalence, incidence and risk factors","volume":"11","author":"Kuo","year":"2015","journal-title":"Nat. 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