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"initials": "H", "orcid": "0000-0003-1949-2298", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bb5a2135b774429596606e980c9268ec.json"}}, {"family": "Butterworth", "given": "Adam S", "initials": "AS"}, {"family": "Okada", "given": "Yukinori", "initials": "Y", "orcid": "0000-0002-0311-8472", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2b7e4b24ebe8458592e8536be3da6164.json"}}, {"family": "Edwards", "given": "Todd L", "initials": "TL", "orcid": "0000-0003-4318-6119", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a8c555d3f6704b69821f39dcac8984d5.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}, {"family": "Susztak", "given": "Katalin", "initials": "K"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5283e0dd4ad745938042b3fb48fcb73d.json"}}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Hung", "given": "Adriana M", "initials": "AM", "orcid": "0000-0002-3203-1608", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c9c6d7e42fd4f1bb64e93c1660a6010.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A"}, {"family": "Pattaro", "given": "Cristian", "initials": "C"}, {"family": "Woodward", "given": "Owen M", "initials": "OM", "orcid": "0000-0001-9514-2180", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/387efd5abfac4fd9b8114a3b1da7fb75.json"}}, {"family": "Vitart", "given": "Veronique", "initials": "V", "orcid": "0000-0002-4991-3797", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3270297f0f1b4de4bb181d7be8e1f447.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed83f5aa153f40169b9975b5c4360653.json"}}], "type": "journal article", "published": "2019-10-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "51", "issue": "10", "pages": "1459-1474", "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": [], "xrefs": [{"db": "mid", "key": "NIHMS1538428"}, {"db": "pmc", "key": "PMC6858555"}, {"db": "pii", "key": "10.1038/s41588-019-0504-x"}], "notes": [], "created": "2026-09-23T06:33:58.552Z", "modified": "2026-09-23T06:33:59.410Z"}, {"entity": "publication", "iuid": "e4eb153af8ec41768e069b8bbd9dba63", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e4eb153af8ec41768e069b8bbd9dba63.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e4eb153af8ec41768e069b8bbd9dba63"}}, "title": "Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.", "authors": [{"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1a40a959d1b8480cb8268e00f77a0449.json"}}, {"family": "Li", "given": "Yong", "initials": "Y", "orcid": "0000-0003-2651-8791", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe899ba2a29e4ec3ad81ef8027f8326e.json"}}, {"family": "Ghasemi", "given": "Sahar", "initials": "S"}, {"family": "Prins", "given": "Bram P", "initials": "BP"}, {"family": "Wuttke", "given": "Matthias", "initials": "M", "orcid": "0000-0003-3420-5082", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6f2f154153f941cb98907f8d3e454281.json"}}, {"family": "Hermle", "given": "Tobias", "initials": "T"}, {"family": "Giri", "given": "Ayush", "initials": "A", "orcid": "0000-0002-7786-4670", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/424e945c81e14434a13205bdd2e986ac.json"}}, {"family": "Sieber", "given": "Karsten B", "initials": "KB"}, {"family": "Qiu", "given": 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{"family": "Shaffer", "given": "Christian M", "initials": "CM"}, {"family": "Shi", "given": "Yuan", "initials": "Y"}, {"family": "Smith", "given": "Albert V", "initials": "AV", "orcid": "0000-0003-1942-5845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/51752e0d35a74befa66a65b95ceaad38.json"}}, {"family": "Strauch", "given": "Konstantin", "initials": "K"}, {"family": "Stumvoll", "given": "Michael", "initials": "M"}, {"family": "Sun", "given": "Benjamin B", "initials": "BB", "orcid": "0000-0001-6347-2281", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/da2eef8768f245dda8ef8f0f81d13715.json"}}, {"family": "Szymczak", "given": "Silke", "initials": "S", "orcid": "0000-0002-8897-9035", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bfe5abdf113d41688135dbc9c46566a3.json"}}, {"family": "Tai", "given": "E-Shyong", "initials": "ES"}, {"family": "Tan", "given": "Nicholas Y Q", "initials": "NYQ"}, {"family": "Taylor", "given": "Kent D", "initials": "KD", "orcid": "0000-0002-2756-4370", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e15e69a064a449c2a8cf607dca2b7310.json"}}, {"family": "Teren", "given": "Andrej", "initials": "A"}, {"family": "Tham", "given": "Yih-Chung", "initials": "YC"}, {"family": "Thiery", "given": "Joachim", "initials": "J"}, {"family": "Thio", "given": "Chris H L", "initials": "CHL", "orcid": "0000-0003-2623-7172", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e2f21bc0b8804e6ba4836bd667c7bc4b.json"}}, {"family": "Thomsen", "given": "Hauke", "initials": "H"}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "T\u00f6njes", "given": "Anke", "initials": "A"}, {"family": "Tremblay", "given": "Johanne", "initials": "J"}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aee3acd4781c4c678184783464f77f1d.json"}}, {"family": "van der Harst", "given": "Pim", "initials": "P", "orcid": "0000-0002-2713-686X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/808139762faf4ad8a4eeb39f3a60b61f.json"}}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4ce7bbbc0c7c48d699dc9fc3ee251bf3.json"}}, {"family": "Vogelezang", "given": "Suzanne", "initials": "S"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U", "orcid": "0000-0002-5689-3448", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/68bb357d1344475596bf14ca926fdac5.json"}}, {"family": "Waldenberger", "given": "Melanie", "initials": "M"}, {"family": "Wang", "given": "Chaolong", "initials": "C", "orcid": "0000-0003-3945-1012", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1571414ed69c45e7986dc9a7d08f9de9.json"}}, {"family": "Wilson", "given": "Otis D", "initials": "OD"}, {"family": "Wong", "given": "Charlene", "initials": "C"}, {"family": "Wong", "given": "Tien-Yin", "initials": "TY"}, {"family": "Yang", "given": "Qiong", "initials": "Q", "orcid": "0000-0002-3658-1375", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0f83a12a89464005914934998b2b2ac3.json"}}, {"family": "Yasuda", "given": "Masayuki", "initials": "M"}, {"family": "Akilesh", "given": "Shreeram", "initials": "S"}, {"family": "Bochud", "given": "Murielle", "initials": "M"}, {"family": "B\u00f6ger", "given": "Carsten A", "initials": "CA"}, {"family": "Devuyst", "given": "Olivier", "initials": "O", "orcid": "0000-0003-3744-4767", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5cc6131a6b3b452f8f2c19e60f96b95f.json"}}, {"family": "Edwards", "given": "Todd L", "initials": "TL", "orcid": "0000-0003-4318-6119", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a8c555d3f6704b69821f39dcac8984d5.json"}}, {"family": "Ho", "given": "Kevin", "initials": "K", "orcid": "0000-0002-3054-8697", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2ed493f085c64c5584d14c68bd53e037.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP", "orcid": "0000-0002-6805-6014", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aaff6a0afcdf464a8de49c2ece7399e2.json"}}, {"family": "Parsa", "given": "Afshin", "initials": "A"}, {"family": "Pendergrass", "given": "Sarah A", "initials": "SA", "orcid": "0000-0002-0565-6522", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/815e8aaac17349a7b4ceabd872f83e16.json"}}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI", "orcid": "0000-0001-7191-1723", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50edc25b80cc48b699db367e372fded5.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}, {"family": "Wilson", "given": "James G", "initials": "JG"}, {"family": "Susztak", "given": "Katalin", "initials": "K", "orcid": "0000-0002-1005-3726", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6903d896819e46018a44e37d4ec59435.json"}}, {"family": "Snieder", "given": "Harold", "initials": "H"}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5283e0dd4ad745938042b3fb48fcb73d.json"}}, {"family": "Butterworth", "given": "Adam S", "initials": "AS", "orcid": "0000-0002-6915-9015", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/88842023860148bb8d155b5c18db72a8.json"}}, {"family": "Hung", "given": "Adriana M", "initials": "AM", "orcid": "0000-0002-3203-1608", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c9c6d7e42fd4f1bb64e93c1660a6010.json"}}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d8c7ff447060429da7904b26ea8b1d4b.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed83f5aa153f40169b9975b5c4360653.json"}}], "type": "journal article", "published": "2019-09-11", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "10", "issue": "1", "pages": "4130", "issn-l": "2041-1723"}, "abstract": "Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) and European-ancestry specific meta-analyses of genome-wide association studies of UACR, including ancestry- and diabetes-specific analyses, and identify 68 UACR-associated loci. Genetic correlation analyses and risk score associations in an independent electronic medical records database (n = 192,868) reveal connections with proteinuria, hyperlipidemia, gout, and hypertension. Fine-mapping and trans-Omics analyses with gene expression in 47 tissues and plasma protein levels implicate genes potentially operating through differential expression in kidney (including TGFB1, MUC1, PRKCI, and OAF), and allow coupling of UACR associations to altered plasma OAF concentrations. Knockdown of OAF and PRKCI orthologs in Drosophila nephrocytes reduces albumin endocytosis. Silencing fly PRKCI further impairs slit diaphragm formation. These results generate a priority list of genes and pathways for translational research to reduce albuminuria.", "doi": "10.1038/s41467-019-11576-0", "pmid": "31511532", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6739370"}, {"db": "pii", "key": "10.1038/s41467-019-11576-0"}], "notes": [], "created": "2026-09-23T06:41:43.870Z", "modified": "2026-09-23T06:41:44.587Z"}, {"entity": "publication", "iuid": "e3153b7609ad4515bbdda959618c46ed", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e3153b7609ad4515bbdda959618c46ed.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e3153b7609ad4515bbdda959618c46ed"}}, "title": "A catalog of genetic loci associated with kidney function from analyses of a million individuals.", "authors": [{"family": "Wuttke", "given": "Matthias", "initials": "M", "orcid": "0000-0003-3420-5082", "researcher": {"href": 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"Snieder", "given": "Harold", "initials": "H"}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}, {"family": "Hung", "given": "Adriana M", "initials": "AM", "orcid": "0000-0002-3203-1608", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c9c6d7e42fd4f1bb64e93c1660a6010.json"}}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5283e0dd4ad745938042b3fb48fcb73d.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1a40a959d1b8480cb8268e00f77a0449.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed83f5aa153f40169b9975b5c4360653.json"}}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d8c7ff447060429da7904b26ea8b1d4b.json"}}], "type": "journal article", "published": "2019-06-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "51", "issue": "6", "pages": "957-972", "issn-l": "1061-4036"}, "abstract": "Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.", "doi": "10.1038/s41588-019-0407-x", "pmid": "31152163", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1038587"}, {"db": "pmc", "key": "PMC6698888"}, {"db": "pii", "key": "10.1038/s41588-019-0407-x"}], "notes": [], "created": "2026-09-22T19:59:34.302Z", "modified": "2026-09-22T19:59:35.870Z"}]}