{"entity": "publication", "iuid": "95d99038b0d24c8994108c7b2be420fa", "timestamp": "2026-08-10T23:43:57.383Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/95d99038b0d24c8994108c7b2be420fa.json"}, "display": {"href": "https://publications.scilifelab.se/publication/95d99038b0d24c8994108c7b2be420fa"}}, "title": "Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.", "authors": [{"family": "Wessel", "given": "Jennifer", "initials": "J"}, {"family": "Chu", "given": "Audrey Y", "initials": "AY"}, {"family": "Willems", "given": "Sara M", "initials": "SM"}, {"family": "Wang", "given": "Shuai", "initials": "S"}, {"family": "Yaghootkar", "given": "Hanieh", "initials": "H"}, {"family": "Brody", "given": "Jennifer A", "initials": "JA"}, {"family": "Dauriz", "given": "Marco", "initials": "M"}, {"family": "Hivert", "given": "Marie-France", "initials": "MF"}, {"family": "Raghavan", "given": "Sridharan", 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"initials": "N"}, {"family": "Thanopoulou", "given": "Anastasia", "initials": "A"}, {"family": "Torres", "given": "Mina", "initials": "M"}, {"family": "Traglia", "given": "Michela", "initials": "M"}, {"family": "Tsafantakis", "given": "Emmanouil", "initials": "E"}, {"family": "Javad", "given": "Sundas", "initials": "S"}, {"family": "Yanek", "given": "Lisa R", "initials": "LR"}, {"family": "Zengini", "given": "Eleni", "initials": "E"}, {"family": "Becker", "given": "Diane M", "initials": "DM"}, {"family": "Bis", "given": "Joshua C", "initials": "JC"}, {"family": "Brown", "given": "James B", "initials": "JB"}, {"family": "Cupples", "given": "L Adrienne", "initials": "LA"}, {"family": "Hansen", "given": "Torben", "initials": "T"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Karter", "given": "Andrew J", "initials": "AJ"}, {"family": "Lorenzo", "given": "Carlos", "initials": "C"}, {"family": "Mathias", "given": "Rasika A", "initials": "RA"}, {"family": "Norris", 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{"family": "Harris", "given": "Tamara B", "initials": "TB"}, {"family": "Hattersley", "given": "Andrew T", "initials": "AT"}, {"family": "Hayward", "given": "Caroline", "initials": "C"}, {"family": "Hofman", "given": "Albert", "initials": "A"}, {"family": "Jansson", "given": "Jan-H\u00e5kan", "initials": "JH"}, {"family": "Langenberg", "given": "Claudia", "initials": "C"}, {"family": "Launer", "given": "Lenore J", "initials": "LJ"}, {"family": "Levy", "given": "Daniel", "initials": "D"}, {"family": "Oostra", "given": "Ben A", "initials": "BA"}, {"family": "O'Donnell", "given": "Christopher J", "initials": "CJ"}, {"family": "O'Rahilly", "given": "Stephen", "initials": "S"}, {"family": "Padmanabhan", "given": "Sandosh", "initials": "S"}, {"family": "Pankow", "given": "James S", "initials": "JS"}, {"family": "Polasek", "given": "Ozren", "initials": "O"}, {"family": "Province", "given": "Michael A", "initials": "MA"}, {"family": "Rich", "given": "Stephen S", "initials": "SS"}, {"family": "Ridker", "given": "Paul M", "initials": "PM"}, {"family": "Rudan", "given": "Igor", "initials": "I"}, {"family": "Schulze", "given": "Matthias B", "initials": "MB"}, {"family": "Smith", "given": "Blair H", "initials": "BH"}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG"}, {"family": "Walker", "given": "Mark", "initials": "M"}, {"family": "Watkins", "given": "Hugh", "initials": "H"}, {"family": "Wong", "given": "Tien Y", "initials": "TY"}, {"family": "Zeggini", "given": "Eleftheria", "initials": "E"}, {"family": "EPIC-InterAct Consortium", "given": "", "initials": ""}, {"family": "Laakso", "given": "Markku", "initials": "M"}, {"family": "Borecki", "given": "Ingrid B", "initials": "IB"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Pedersen", "given": "Oluf", "initials": "O"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Tai", "given": "E Shyong", "initials": "ES"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Wareham", "given": "Nicholas J", "initials": "NJ"}, {"family": "Waterworth", "given": "Dawn M", "initials": "DM"}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Kao", "given": "W H Linda", "initials": "WH"}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJ"}, {"family": "Wilson", "given": "James G", "initials": "JG"}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Siscovick", "given": "David S", "initials": "DS"}, {"family": "Dupuis", "given": "Jos\u00e9e", "initials": "J"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Meigs", "given": "James B", "initials": "JB"}, {"family": "Scott", "given": "Robert A", "initials": "RA"}, {"family": "Goodarzi", "given": "Mark O", "initials": "MO"}], "type": "journal article", "published": "2015-01-29", "journal": {"volume": "6", "issn": "2041-1723", "issue": null, "pages": "5897", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (\u03b2=-0.09\u00b10.01\u2009mmol\u2009l(-1), P=3.4 \u00d7 10(-12)), T2D risk (OR[95%CI]=0.86[0.76-0.96], P=0.010), early insulin secretion (\u03b2=-0.07\u00b10.035\u2009pmolinsulin mmolglucose(-1), P=0.048), but higher 2-h glucose (\u03b2=0.16\u00b10.05\u2009mmol\u2009l(-1), P=4.3 \u00d7 10(-4)). We identify a gene-based association with FG at G6PC2 (pSKAT=6.8 \u00d7 10(-6)) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF=20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (\u03b2=0.02\u00b10.004\u2009mmol\u2009l(-1), P=1.3 \u00d7 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility.", "doi": "10.1038/ncomms6897", "pmid": "25631608", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "ncomms6897"}, {"db": "pmc", "key": "PMC4311266"}, {"db": "mid", "key": "NIHMS642453"}], "notes": [], "created": "2017-10-30T13:12:56.257Z", "modified": "2020-01-21T13:56:08.162Z"}