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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"}, {"entity": "publication", "iuid": "6d611371a9e24369b0541f194047301d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6d611371a9e24369b0541f194047301d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6d611371a9e24369b0541f194047301d"}}, "title": "Multi-ethnic genome-wide association study for atrial fibrillation.", "authors": [{"family": "Roselli", "given": "Carolina", "initials": "C", "orcid": "0000-0001-5267-6756", "researcher": {"href": 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"E"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U"}, {"family": "Wang", "given": "Biqi", "initials": "B"}, {"family": "Weeke", "given": "Peter E", "initials": "PE"}, {"family": "Weijs", "given": "Bob", "initials": "B", "orcid": "0000-0003-3202-4931", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0cc03d79573e433497debd2c81eb26af.json"}}, {"family": "Weiss", "given": "Raul", "initials": "R"}, {"family": "Weiss", "given": "Stefan", "initials": "S", "orcid": "0000-0002-3553-4315", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ebf58f688caa49ab9e0a3e56349b1031.json"}}, {"family": "Wells", "given": "Quinn S", "initials": "QS"}, {"family": "Wiggins", "given": "Kerri L", "initials": "KL", "orcid": "0000-0003-2749-1279", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81a494bbde4e455295116301551c8cb8.json"}}, {"family": "Wong", "given": "Jorge A", "initials": "JA"}, {"family": "Woo", "given": "Daniel", "initials": "D"}, {"family": "Worrall", "given": "Bradford B", "initials": "BB"}, {"family": "Yang", "given": "Pil-Sung", "initials": "PS"}, {"family": "Yao", "given": "Jie", "initials": "J"}, {"family": "Yoneda", "given": "Zachary T", "initials": "ZT"}, {"family": "Zeller", "given": "Tanja", "initials": "T"}, {"family": "Zeng", "given": "Lingyao", "initials": "L"}, {"family": "Lubitz", "given": "Steven A", "initials": "SA", "orcid": "0000-0002-9599-4866", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/60efe6f9ed234eaca23702a92b8aa49f.json"}}, {"family": "Lunetta", "given": "Kathryn L", "initials": "KL"}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd1830794e884e6e849fd4f7645c9b61.json"}}], "type": "journal article", "published": "2018-06-11", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "9", "pages": "1225-1233", "issn-l": "1061-4036"}, "abstract": "Atrial fibrillation (AF) affects more than 33 million individuals worldwide1 and has a complex heritability2. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF. We also performed transcriptome-wide analyses that identified 57 AF-associated genes, 42 of which overlap with GWAS loci. The identified loci implicate genes enriched within cardiac developmental, electrophysiological, contractile and structural pathways. These results extend our understanding of the biological pathways underlying AF and may facilitate the development of therapeutics for AF.", "doi": "10.1038/s41588-018-0133-9", "pmid": "29892015", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS986675"}, {"db": "pmc", "key": "PMC6136836"}, {"db": "pii", "key": "10.1038/s41588-018-0133-9"}], "notes": [], "created": "2019-01-17T14:00:58.837Z", "modified": "2026-09-23T06:29:56.965Z"}, {"entity": "publication", "iuid": "9d121885f7af43e39b27850d3d291ea7", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9d121885f7af43e39b27850d3d291ea7.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9d121885f7af43e39b27850d3d291ea7"}}, "title": "Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.", "authors": [{"family": "Wheeler", "given": "Eleanor", "initials": "E"}, {"family": "Leong", "given": "Aaron", "initials": "A"}, {"family": "Liu", "given": "Ching-Ti", "initials": "CT", "orcid": "0000-0002-0703-0742", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0df836bc876845a6af66828561f24a27.json"}}, {"family": "Hivert", "given": "Marie-France", "initials": "MF", "orcid": "0000-0001-7752-2585", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/169db36efa684d52b695320a37217909.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1cccd06a2fb54f769c5710c8758f2ebe.json"}}, {"family": "Podmore", "given": "Clara", "initials": "C", "orcid": "0000-0002-2452-8067", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/63d1e5046c8c40c8bf3860570dd067f7.json"}}, {"family": "Li", "given": "Man", "initials": "M", "orcid": 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"Sheu", "given": "Wayne H H", "initials": "WHH"}, {"family": "Snieder", "given": "Harold", "initials": "H"}, {"family": "Spector", "given": "Timothy D", "initials": "TD"}, {"family": "Tabara", "given": "Yasuharu", "initials": "Y"}, {"family": "Tuomilehto", "given": "Jaakko", "initials": "J"}, {"family": "van Dam", "given": "Rob M", "initials": "RM", "orcid": "0000-0002-7354-8734", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d73dd7baccaa47fe80dd2568bdf6ef7a.json"}}, {"family": "Wilson", "given": "James G", "initials": "JG"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/513b6983cc9d478ab9d81c2f21579961.json"}}, {"family": "Wolffenbuttel", "given": "Bruce H R", "initials": "BHR"}, {"family": "Wong", "given": "Tien Yin", "initials": "TY", "orcid": "0000-0002-8448-1264", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4fa41a34f4f045b2be3ed00dba0be24b.json"}}, {"family": "Wu", "given": "Jer-Yuarn", "initials": "JY"}, {"family": "Yuan", "given": "Jian-Min", "initials": "JM", "orcid": "0000-0002-4620-3108", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f9eca50b3180443aaa7930e77f4e219e.json"}}, {"family": "Zonderman", "given": "Alan B", "initials": "AB"}, {"family": "Soranzo", "given": "Nicole", "initials": "N"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Roberts", "given": "David J", "initials": "DJ"}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Sladek", "given": "Robert", "initials": "R", "orcid": "0000-0002-2730-1204", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14b368334a704ae7b31036b3e0eccb9f.json"}}, {"family": "Dupuis", "given": "Jos\u00e9e", "initials": "J", "orcid": "0000-0003-2871-3603", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fdb74e8dee5d44c8ac7ee0d08de8180b.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP", "orcid": "0000-0002-6805-6014", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aaff6a0afcdf464a8de49c2ece7399e2.json"}}, {"family": "Tai", "given": "E-Shyong", "initials": "ES"}, {"family": "Selvin", "given": "Elizabeth", "initials": "E"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Langenberg", "given": "Claudia", "initials": "C", "orcid": "0000-0002-5017-7344", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f287f3248cc24c6cbfc100c249b87418.json"}}, {"family": "Barroso", "given": "In\u00eas", "initials": "I", "orcid": "0000-0001-5800-4520", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/72e641d8461d415e8ab6c96f902b299a.json"}}, {"family": "Meigs", "given": "James B", "initials": "JB"}], "type": "journal article", "published": "2017-09-00", "journal": {"title": "PLoS Med.", "issn": "1549-1676", "volume": "14", "issue": "9", "pages": "e1002383", "issn-l": "1549-1277"}, "abstract": "Glycated hemoglobin (HbA1c) is used to diagnose type 2 diabetes (T2D) and assess glycemic control in patients with diabetes. Previous genome-wide association studies (GWAS) have identified 18 HbA1c-associated genetic variants. These variants proved to be classifiable by their likely biological action as erythrocytic (also associated with erythrocyte traits) or glycemic (associated with other glucose-related traits). In this study, we tested the hypotheses that, in a very large scale GWAS, we would identify more genetic variants associated with HbA1c and that HbA1c variants implicated in erythrocytic biology would affect the diagnostic accuracy of HbA1c. We therefore expanded the number of HbA1c-associated loci and tested the effect of genetic risk-scores comprised of erythrocytic or glycemic variants on incident diabetes prediction and on prevalent diabetes screening performance. Throughout this multiancestry study, we kept a focus on interancestry differences in HbA1c genetics performance that might influence race-ancestry differences in health outcomes.\n\nUsing genome-wide association meta-analyses in up to 159,940 individuals from 82 cohorts of European, African, East Asian, and South Asian ancestry, we identified 60 common genetic variants associated with HbA1c. We classified variants as implicated in glycemic, erythrocytic, or unclassified biology and tested whether additive genetic scores of erythrocytic variants (GS-E) or glycemic variants (GS-G) were associated with higher T2D incidence in multiethnic longitudinal cohorts (N = 33,241). Nineteen glycemic and 22 erythrocytic variants were associated with HbA1c at genome-wide significance. GS-G was associated with higher T2D risk (incidence OR = 1.05, 95% CI 1.04-1.06, per HbA1c-raising allele, p = 3 \u00d7 10-29); whereas GS-E was not (OR = 1.00, 95% CI 0.99-1.01, p = 0.60). In Europeans and Asians, erythrocytic variants in aggregate had only modest effects on the diagnostic accuracy of HbA1c. Yet, in African Americans, the X-linked G6PD G202A variant (T-allele frequency 11%) was associated with an absolute decrease in HbA1c of 0.81%-units (95% CI 0.66-0.96) per allele in hemizygous men, and 0.68%-units (95% CI 0.38-0.97) in homozygous women. The G6PD variant may cause approximately 2% (N = 0.65 million, 95% CI 0.55-0.74) of African American adults with T2D to remain undiagnosed when screened with HbA1c. Limitations include the smaller sample sizes for non-European ancestries and the inability to classify approximately one-third of the variants. Further studies in large multiethnic cohorts with HbA1c, glycemic, and erythrocytic traits are required to better determine the biological action of the unclassified variants.\n\nAs G6PD deficiency can be clinically silent until illness strikes, we recommend investigation of the possible benefits of screening for the G6PD genotype along with using HbA1c to diagnose T2D in populations of African ancestry or groups where G6PD deficiency is common. Screening with direct glucose measurements, or genetically-informed HbA1c diagnostic thresholds in people with G6PD deficiency, may be required to avoid missed or delayed diagnoses.", "doi": "10.1371/journal.pmed.1002383", "pmid": "28898252", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5595282"}, {"db": "pii", "key": "PMEDICINE-D-17-00599"}], "notes": [], "created": "2018-12-05T11:25:19.021Z", "modified": "2026-09-23T06:33:43.552Z"}, {"entity": "publication", "iuid": "f5ca9acda2394f8ca8555d14dcec24a4", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f5ca9acda2394f8ca8555d14dcec24a4.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f5ca9acda2394f8ca8555d14dcec24a4"}}, "title": "Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.", "authors": [{"family": "Christophersen", "given": "Ingrid E", "initials": "IE", "orcid": "0000-0002-6141-4712", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66cf18798d82477a8771ce40cf067fed.json"}}, {"family": "Rienstra", "given": "Michiel", "initials": "M"}, {"family": "Roselli", "given": "Carolina", "initials": "C"}, {"family": "Yin", "given": "Xiaoyan", "initials": "X"}, {"family": "Geelhoed", "given": "Bastiaan", "initials": "B"}, {"family": "Barnard", "given": "John", "initials": "J", "orcid": "0000-0003-2403-8268", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5c279a7a7e984d4491312768292ce611.json"}}, {"family": "Lin", "given": "Honghuang", "initials": "H", "orcid": "0000-0003-3043-3942", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6fcff923f48845b88239000f20875e7c.json"}}, {"family": "Arking", "given": "Dan E", "initials": "DE"}, {"family": "Smith", "given": "Albert V", "initials": "AV", "orcid": "0000-0003-1942-5845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/51752e0d35a74befa66a65b95ceaad38.json"}}, {"family": "Albert", "given": "Christine M", "initials": "CM"}, {"family": "Chaffin", "given": "Mark", "initials": "M"}, {"family": "Tucker", "given": "Nathan R", "initials": "NR", "orcid": "0000-0002-5071-4218", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3a084d5794114fcd924cb8962a6053f7.json"}}, {"family": "Li", "given": "Molong", "initials": "M"}, {"family": "Klarin", "given": "Derek", "initials": "D"}, {"family": "Bihlmeyer", "given": "Nathan A", "initials": "NA", "orcid": "0000-0002-4415-7419", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc2aae22d7d242d6934dd1fddfb7cfcd.json"}}, {"family": "Low", "given": "Siew-Kee", "initials": "SK"}, {"family": "Weeke", "given": "Peter E", "initials": "PE"}, {"family": "M\u00fcller-Nurasyid", "given": "Martina", "initials": "M"}, {"family": "Smith", "given": "J Gustav", "initials": "JG"}, {"family": "Brody", "given": "Jennifer A", "initials": "JA", "orcid": "0000-0001-8509-148X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f5e5e63068a4762ba2c4ca10f30aa78.json"}}, {"family": "Niemeijer", "given": "Maartje N", "initials": "MN"}, {"family": "D\u00f6rr", "given": "Marcus", "initials": "M"}, {"family": "Trompet", "given": "Stella", "initials": "S"}, {"family": "Huffman", "given": "Jennifer", "initials": "J", "orcid": "0000-0002-9672-2491", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/db300ba51fe547bbaa3c7dd94a48ae93.json"}}, {"family": "Gustafsson", "given": "Stefan", "initials": "S", "orcid": "0000-0001-5894-0351", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fedf8897d75744f5b17f7c91c892acbf.json"}}, {"family": "Schurmann", "given": "Claudia", "initials": "C"}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": 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"Martin", "initials": "M"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Kooperberg", "given": "Charles", "initials": "C"}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}, {"family": "Laurikka", "given": "Jari", "initials": "J"}, {"family": "Conen", "given": "David", "initials": "D"}, {"family": "Rosand", "given": "Jonathan", "initials": "J"}, {"family": "van der Harst", "given": "Pim", "initials": "P"}, {"family": "Lokki", "given": "Marja-Liisa", "initials": "ML"}, {"family": "Kathiresan", "given": "Sekar", "initials": "S"}, {"family": "Pereira", "given": "Alexandre", "initials": "A"}, {"family": "Jukema", "given": "J Wouter", "initials": "JW", "orcid": "0000-0002-3246-8359", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/51be7e89ccfd4bbe93b216028c57a376.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T"}, {"family": "Stricker", "given": "Bruno H", "initials": "BH"}, {"family": "Chung", "given": "Mina K", "initials": "MK"}, {"family": "Felix", "given": "Stephan B", "initials": "SB"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V"}, {"family": "Alonso", "given": "Alvaro", "initials": "A"}, {"family": "Roden", "given": "Dan M", "initials": "DM"}, {"family": "K\u00e4\u00e4b", "given": "Stefan", "initials": "S"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Heckbert", "given": "Susan R", "initials": "SR"}, {"family": "Benjamin", "given": "Emelia J", "initials": "EJ", "orcid": "0000-0003-4076-2336", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/89bc31f5dd38446b9ffb36e68201e2da.json"}}, {"family": "Tanaka", "given": "Toshihiro", "initials": "T", "orcid": "0000-0001-6201-9784", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/76061df47a364337a534ddafa3176e79.json"}}, {"family": "Lunetta", "given": "Kathryn L", "initials": "KL"}, {"family": "Lubitz", "given": "Steven A", "initials": "SA"}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd1830794e884e6e849fd4f7645c9b61.json"}}, {"family": "AFGen Consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2017-06-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "49", "issue": "6", "pages": "946-952", "issn-l": "1061-4036"}, "abstract": "Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the genetic basis of atrial fibrillation, we performed large-scale, trans-ancestry meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 17,931 individuals with atrial fibrillation and 115,142 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,346 cases and 132,086 referents. We identified 12 new genetic loci that exceeded genome-wide significance, implicating genes involved in cardiac electrical and structural remodeling. Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate the identification of new potential targets for drug discovery.", "doi": "10.1038/ng.3843", "pmid": "28416818", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS901319"}, {"db": "pmc", "key": "PMC5585859"}, {"db": "pii", "key": "ng.3843"}], "notes": [], "created": "2018-12-05T09:14:27.701Z", "modified": "2026-09-23T06:35:46.851Z"}]}