{"entity": "publication", "iuid": "d5de32cbd919471e934a3c71d4538506", "timestamp": "2026-09-30T02:26:55.629Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d5de32cbd919471e934a3c71d4538506.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d5de32cbd919471e934a3c71d4538506"}}, "title": "Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.", "authors": [{"family": "Mahajan", "given": "Anubha", "initials": "A", "orcid": "0000-0001-5585-3420", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/41b3d44662484e0289f07fa25d045cf4.json"}}, {"family": "Taliun", "given": "Daniel", "initials": "D"}, {"family": "Thurner", "given": "Matthias", "initials": "M"}, {"family": "Robertson", "given": "Neil R", "initials": "NR"}, {"family": "Torres", "given": "Jason M", "initials": "JM"}, {"family": "Rayner", "given": "N William", "initials": "NW"}, {"family": "Payne", "given": "Anthony J", "initials": "AJ"}, {"family": "Steinthorsdottir", "given": "Valgerdur", "initials": "V"}, {"family": "Scott", "given": "Robert A", "initials": "RA"}, {"family": "Grarup", "given": "Niels", "initials": "N"}, {"family": "Cook", "given": "James P", "initials": "JP"}, {"family": "Schmidt", "given": "Ellen M", "initials": "EM"}, {"family": "Wuttke", "given": "Matthias", "initials": "M"}, {"family": "Sarnowski", "given": "Chlo\u00e9", "initials": "C"}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R"}, {"family": "Nano", "given": "Jana", "initials": "J"}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Trompet", "given": "Stella", "initials": "S"}, {"family": "Lecoeur", "given": "C\u00e9cile", "initials": "C"}, {"family": "Preuss", "given": "Michael H", "initials": "MH"}, {"family": "Prins", "given": "Bram Peter", "initials": "BP"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Bielak", "given": "Lawrence F", "initials": "LF"}, {"family": "Below", "given": "Jennifer E", "initials": "JE"}, {"family": "Bowden", "given": "Donald W", "initials": "DW"}, {"family": "Chambers", "given": "John Campbell", "initials": "JC"}, {"family": "Kim", "given": "Young Jin", "initials": "YJ"}, {"family": "Ng", "given": "Maggie C Y", "initials": "MCY"}, {"family": "Petty", "given": "Lauren E", "initials": "LE"}, {"family": "Sim", "given": "Xueling", "initials": "X"}, {"family": "Zhang", "given": "Weihua", "initials": "W"}, {"family": "Bennett", "given": "Amanda J", "initials": "AJ"}, {"family": "Bork-Jensen", "given": "Jette", "initials": "J"}, {"family": "Brummett", "given": "Chad M", "initials": "CM"}, {"family": "Canouil", "given": "Micka\u00ebl", "initials": "M"}, {"family": "Ec Kardt", "given": "Kai-Uwe", "initials": "KU"}, {"family": "Fischer", "given": "Krista", "initials": "K"}, {"family": "Kardia", "given": "Sharon L R", "initials": "SLR"}, {"family": "Kronenberg", "given": "Florian", "initials": "F"}, {"family": "L\u00e4ll", "given": "Kristi", "initials": "K"}, {"family": "Liu", "given": "Ching-Ti", "initials": "CT"}, {"family": "Locke", "given": "Adam E", "initials": "AE"}, {"family": "Luan", "given": "Jian'an", "initials": "J"}, {"family": "Ntalla", "given": "Ioanna", "initials": "I"}, {"family": "Nylander", "given": "Vibe", "initials": "V"}, {"family": "Sch\u00f6nherr", "given": "Sebastian", "initials": "S"}, {"family": "Schurmann", "given": "Claudia", "initials": "C"}, {"family": "Yengo", "given": "Lo\u00efc", "initials": "L"}, {"family": "Bottinger", "given": "Erwin P", "initials": "EP"}, {"family": "Brandslund", "given": "Ivan", "initials": "I"}, {"family": "Christensen", "given": "Cramer", "initials": "C"}, {"family": "Dedoussis", "given": "George", "initials": "G"}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Ford", "given": "Ian", "initials": "I"}, {"family": "Franco", "given": "Oscar H", "initials": "OH"}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V"}, {"family": "Hackinger", "given": "Sophie", "initials": "S"}, {"family": "Hattersley", "given": "Andrew T", "initials": "AT"}, {"family": "Herder", "given": "Christian", "initials": "C"}, {"family": "Ikram", "given": "M Arfan", "initials": "MA"}, {"family": "Ingelsson", "given": "Martin", "initials": "M"}, {"family": "J\u00f8rgensen", "given": "Marit E", "initials": "ME"}, {"family": "J\u00f8rgensen", "given": "Torben", "initials": "T"}, {"family": "Kriebel", "given": "Jennifer", "initials": "J"}, {"family": "Kuusisto", "given": "Johanna", "initials": "J"}, {"family": "Ligthart", "given": "Symen", "initials": "S"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Linneberg", "given": "Allan", "initials": "A"}, {"family": "Lyssenko", "given": "Valeriya", "initials": "V"}, {"family": "Mamakou", "given": "Vasiliki", "initials": "V"}, {"family": "Meitinger", "given": "Thomas", "initials": "T"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL"}, {"family": "Morris", "given": "Andrew D", "initials": "AD"}, {"family": "Nadkarni", "given": "Girish", "initials": "G"}, {"family": "Pankow", "given": "James S", "initials": "JS"}, {"family": "Peters", "given": "Annette", "initials": "A"}, {"family": "Sattar", "given": "Naveed", "initials": "N"}, {"family": "Stan\u010d\u00e1kov\u00e1", "given": "Alena", "initials": "A"}, {"family": "Strauch", "given": "Konstantin", "initials": "K"}, {"family": "Taylor", "given": "Kent D", "initials": "KD"}, {"family": "Thorand", "given": "Barbara", "initials": "B"}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G"}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Tuomilehto", "given": "Jaakko", "initials": "J"}, {"family": "Witte", "given": "Daniel R", "initials": "DR"}, {"family": "Dupuis", "given": "Jos\u00e9e", "initials": "J"}, {"family": "Peyser", "given": "Patricia A", "initials": "PA"}, {"family": "Zeggini", "given": "Eleftheria", "initials": "E"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}, {"family": "Froguel", "given": "Philippe", "initials": "P"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Groop", "given": "Leif", "initials": "L"}, {"family": "Laakso", "given": "Markku", "initials": "M"}, {"family": "Collins", "given": "Francis S", "initials": "FS"}, {"family": "Jukema", "given": "J Wouter", "initials": "JW"}, {"family": "Palmer", "given": "Colin N A", "initials": "CNA"}, {"family": "Grallert", "given": "Harald", "initials": "H"}, {"family": "Metspalu", "given": "Andres", "initials": "A"}, {"family": "Dehghan", "given": "Abbas", "initials": "A"}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A"}, {"family": "Abecasis", "given": "Goncalo R", "initials": "GR"}, {"family": "Meigs", "given": "James B", "initials": "JB"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Marchini", "given": "Jonathan", "initials": "J"}, {"family": "Pedersen", "given": "Oluf", "initials": "O"}, {"family": "Hansen", "given": "Torben", "initials": "T"}, {"family": "Langenberg", "given": "Claudia", "initials": "C"}, {"family": "Wareham", "given": "Nicholas J", "initials": "NJ"}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Gloyn", "given": "Anna L", "initials": "AL"}, {"family": "Morris", "given": "Andrew P", "initials": "AP", "orcid": "0000-0002-6805-6014", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aaff6a0afcdf464a8de49c2ece7399e2.json"}}, {"family": "Boehnke", "given": "Michael", "initials": "M", "orcid": "0000-0002-6442-7754", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e36dfed05bd94a1588f0ad628a9e39c5.json"}}, {"family": "McCarthy", "given": "Mark I", "initials": "MI", "orcid": "0000-0002-4393-0510", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/102c7e93640c43c9bbbedd1626adfd7b.json"}}], "type": "journal article", "published": "2018-11-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "11", "pages": "1505-1513", "issn-l": "1061-4036"}, "abstract": "We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we (i) extend the inventory of T2D-risk variants (243 loci, 135 newly implicated in T2D predisposition, comprising 403 distinct association signals); (ii) enrich discovery of lower-frequency risk alleles (80 index variants with minor allele frequency <5%, 14 with estimated allelic odds ratio >2); (iii) substantially improve fine-mapping of causal variants (at 51 signals, one variant accounted for >80% posterior probability of association (PPA)); (iv) extend fine-mapping through integration of tissue-specific epigenomic information (islet regulatory annotations extend the number of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with associations attributable to coding variants); and (vi) demonstrate enhanced potential for clinical translation (genome-wide chip heritability explains 18% of T2D risk; individuals in the extremes of a T2D polygenic risk score differ more than ninefold in prevalence).", "doi": "10.1038/s41588-018-0241-6", "pmid": "30297969", "labels": [], "xrefs": [{"db": "mid", "key": "EMS80721"}, {"db": "pmc", "key": "PMC6287706"}, {"db": "pii", "key": "10.1038/s41588-018-0241-6"}], "notes": [], "created": "2026-09-22T19:58:11.164Z", "modified": "2026-09-22T19:58:11.287Z"}