{"entity": "researcher", "timestamp": "2026-08-22T10:29:57.586Z", "family": "Ahlqvist", "given": "Emma", "initials": "E", "orcid": "0000-0002-6513-2384", "affiliations": ["Lund University Diabetes Centre, Department of Clinical Sciences Malm\u00f6, Lund University, Malm\u00f6, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/e8f6fb443ea34629a88f3d9fc2d0c340.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/e8f6fb443ea34629a88f3d9fc2d0c340"}}, "publications": [{"entity": "publication", "iuid": "81aa727bc07b4fd2a5a34d1eec0ca00f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/81aa727bc07b4fd2a5a34d1eec0ca00f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/81aa727bc07b4fd2a5a34d1eec0ca00f"}}, "title": "GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.", "authors": [{"family": "Lagou", "given": "Vasiliki", "initials": "V"}, {"family": "Jiang", "given": "Longda", "initials": "L"}, {"family": "Ulrich", "given": "Anna", "initials": "A"}, {"family": "Zudina", "given": "Liudmila", "initials": "L"}, {"family": "Gonz\u00e1lez", "given": "Karla Sofia Guti\u00e9rrez", "initials": "KSG", "orcid": "0009-0006-1948-9047", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2aff1b09e0764db5b8a5951cce3d27c1.json"}}, {"family": "Balkhiyarova", "given": "Zhanna", "initials": "Z"}, {"family": "Faggian", "given": "Alessia", "initials": "A", "orcid": "0000-0002-3799-9722", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a80d46f03c834ee796db8db7206095ae.json"}}, {"family": "Maina", "given": "Jared G", "initials": "JG"}, {"family": "Chen", "given": "Shiqian", "initials": "S"}, {"family": "Todorov", "given": "Petar V", "initials": "PV"}, {"family": "Sharapov", "given": "Sodbo", 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"initials": "J", "orcid": "0000-0002-3424-0745", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b03750fc66434e4b92e76084e7fce15d.json"}}, {"family": "Boehnke", "given": "Michael", "initials": "M", "orcid": "0000-0002-6442-7754", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e36dfed05bd94a1588f0ad628a9e39c5.json"}}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "Watkins", "given": "Hugh", "initials": "H"}, {"family": "Nj\u00f8lstad", "given": "Inger", "initials": "I"}, {"family": "Wichmann", "given": "H-Erich", "initials": "HE"}, {"family": "Caulfield", "given": "Mark J", "initials": "MJ", "orcid": "0000-0001-9295-3594", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2b025d12d083479b8c86347e83dd05d0.json"}}, {"family": "Khaw", "given": "Kay-Tee", "initials": "KT"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM", "orcid": "0000-0002-2374-9204", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f80ecaf200f24b4092c9a6ed77dfff8d.json"}}, {"family": "Hofman", "given": "Albert", "initials": "A"}, {"family": "Wareham", "given": "Nicholas J", "initials": "NJ", "orcid": "0000-0003-1422-2993", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/462fd4169f41418887a5a979e0808d87.json"}}, {"family": "Langenberg", "given": "Claudia", "initials": "C", "orcid": "0000-0002-5017-7344", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f287f3248cc24c6cbfc100c249b87418.json"}}, {"family": "Whitfield", "given": "John B", "initials": "JB"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG"}, {"family": "Montgomery", "given": "Grant", "initials": "G", "orcid": "0000-0002-4140-8139", "researcher": {"href": 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"https://publications-affiliated.scilifelab.se/researcher/6d888b46105540a484aacd364ab645f9.json"}}, {"family": "McCarthy", "given": "Mark I", "initials": "MI", "orcid": "0000-0002-4393-0510", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/102c7e93640c43c9bbbedd1626adfd7b.json"}}, {"family": "Froguel", "given": "Philippe", "initials": "P", "orcid": "0000-0003-2972-0784", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cfa1447bfb9d4d04a5625d48f13fcd4e.json"}}, {"family": "Sexton", "given": "Patrick M", "initials": "PM"}, {"family": "Wootten", "given": "Denise", "initials": "D"}, {"family": "Groop", "given": "Leif", "initials": "L", "orcid": "0000-0002-0187-3263", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6b549c1ef49648bf81c481bc88857552.json"}}, {"family": "Dupuis", "given": "Jos\u00e9e", "initials": "J", "orcid": "0000-0003-2871-3603", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fdb74e8dee5d44c8ac7ee0d08de8180b.json"}}, {"family": "Meigs", "given": "James B", "initials": "JB", "orcid": "0000-0002-2439-2657", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c2d2678807b544abb0cc247e130614b6.json"}}, {"family": "Deganutti", "given": "Giuseppe", "initials": "G", "orcid": "0000-0001-8780-2986", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e76ac5e2d4b348269fa7bd9021d20c8d.json"}}, {"family": "Demirkan", "given": "Ayse", "initials": "A"}, {"family": "Pers", "given": "Tune H", "initials": "TH", "orcid": "0000-0003-0207-4831", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5229243d3ee54140b73924a3c221ecf1.json"}}, {"family": "Reynolds", "given": "Christopher A", "initials": "CA"}, {"family": "Aulchenko", "given": "Yurii S", "initials": "YS", "orcid": "0000-0002-7899-1575", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d581818861a47f6965867c1b1138994.json"}}, {"family": "Kaakinen", "given": "Marika A", "initials": "MA"}, {"family": "Jones", "given": "Ben", "initials": "B", "orcid": "0000-0003-0461-2584", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3684d9aacc2d40108962bbb7e49fd48d.json"}}, {"family": "Prokopenko", "given": "Inga", "initials": "I", "orcid": "0000-0003-1624-7457", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aa86d82a5dc54f53b4ff6e622b7f07fb.json"}}, {"family": "Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC)", "given": "", "initials": ""}], "type": "meta-analysis", "published": "2023-09-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "55", "issue": "9", "pages": "1448-1461", "issn-l": "1061-4036"}, "abstract": "Conventional measurements of fasting and postprandial blood glucose levels investigated in genome-wide association studies (GWAS) cannot capture the effects of DNA variability on 'around the clock' glucoregulatory processes. Here we show that GWAS meta-analysis of glucose measurements under nonstandardized conditions (random glucose (RG)) in 476,326 individuals of diverse ancestries and without diabetes enables locus discovery and innovative pathophysiological observations. We discovered 120 RG loci represented by 150 distinct signals, including 13 with sex-dimorphic effects, two cross-ancestry and seven rare frequency signals. Of these, 44 loci are new for glycemic traits. Regulatory, glycosylation and metagenomic annotations highlight ileum and colon tissues, indicating an underappreciated role of the gastrointestinal tract in controlling blood glucose. Functional follow-up and molecular dynamics simulations of lower frequency coding variants in glucagon-like peptide-1 receptor (GLP1R), a type 2 diabetes treatment target, reveal that optimal selection of GLP-1R agonist therapy will benefit from tailored genetic stratification. We also provide evidence from Mendelian randomization that lung function is modulated by blood glucose and that pulmonary dysfunction is a diabetes complication. Our investigation yields new insights into the biology of glucose regulation, diabetes complications and pathways for treatment stratification.", "doi": "10.1038/s41588-023-01462-3", "pmid": "37679419", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10484788"}, {"db": "pii", "key": "10.1038/s41588-023-01462-3"}], "notes": [], "created": "2026-08-21T11:51:46.118Z", "modified": "2026-08-21T11:51:47.165Z"}, {"entity": "publication", "iuid": "90472a358dc44005bad946d039912d13", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/90472a358dc44005bad946d039912d13.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/90472a358dc44005bad946d039912d13"}}, "title": "Genome-Wide Association Study of Peripheral Artery Disease.", "authors": [{"family": "van Zuydam", "given": "Natalie R", "initials": "NR", "orcid": "0000-0002-9809-1398", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/09a3e7b547e54d7c8290bb2aec1062be.json"}}, {"family": "Stiby", "given": "Alexander", "initials": "A"}, {"family": "Abdalla", "given": "Moustafa", "initials": "M", "orcid": "0000-0002-2481-9753", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2fb0711717534a829043bed28bc98ce7.json"}}, {"family": "Austin", "given": "Erin", "initials": "E", "orcid": "0000-0002-2709-8699", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6435de3ffefb43e69a8a85573ba13f4a.json"}}, {"family": "Dahlstr\u00f6m", "given": "Emma H", "initials": "EH", "orcid": "0000-0002-9809-1398", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/09a3e7b547e54d7c8290bb2aec1062be.json"}}, {"family": "McLachlan", "given": "Stela", "initials": "S"}, {"family": "Vlachopoulou", "given": "Efthymia", "initials": "E"}, {"family": "Ahlqvist", "given": "Emma", "initials": "E", "orcid": "0000-0002-6513-2384", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e8f6fb443ea34629a88f3d9fc2d0c340.json"}}, {"family": "Di Liao", "given": "Chen", "initials": "C", "orcid": "0000-0001-9469-205X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cf0186fac0e24e6d91f9027b63e8fd5b.json"}}, {"family": "Sandholm", "given": "Niina", "initials": "N", "orcid": "0000-0003-4322-6942", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c29eba17030b41fcb1716b156f1455b4.json"}}, {"family": "Forsblom", "given": "Carol", "initials": "C", "orcid": "0000-0002-3354-7454", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/91d7eb4b72c54e0da673f13e082064e4.json"}}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "Robertson", "given": "Neil R", "initials": "NR"}, {"family": "Rayner", "given": "N William", "initials": "NW", "orcid": "0000-0003-0510-4792", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aca0e60ed7a9424ab0336f211a084372.json"}}, {"family": "Lindholm", "given": "Eero", "initials": "E", "orcid": "0000-0002-8869-681X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bedad17d5c7c44b5b64abac618d2c7fc.json"}}, {"family": "Sinisalo", "given": "Juha", "initials": "J", "orcid": "0000-0002-0169-5137", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3bd9a39dac594dda9eb2d137b3792daf.json"}}, {"family": "Perola", "given": "Markus", "initials": "M", "orcid": "0000-0003-4842-1667", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c2a1416ebe744ccdbf3649093e5a43c2.json"}}, {"family": "Kallio", "given": "Milla", "initials": "M", "orcid": "0000-0001-7215-5202", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/71cd6c405a244736a89cbf8a172dd578.json"}}, {"family": "Weiss", "given": "Emily", "initials": "E", "orcid": "0000-0001-9903-7222", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f5547af359c4fccaa3460b0d9555e80.json"}}, {"family": "Price", "given": "Jackie", "initials": "J"}, {"family": "Paterson", "given": "Andrew", "initials": "A", "orcid": "0000-0002-9169-118X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b65034fdd69a40ec9074198f7ea92ebe.json"}}, {"family": "Klein", "given": "Barbara", "initials": "B"}, {"family": "Salomaa", "given": "Veikko", "initials": "V", "orcid": "0000-0001-7563-5324", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/98bbbbad9420401aab285fe61172c736.json"}}, {"family": "Palmer", "given": "Colin N A", "initials": "CNA", "orcid": "0000-0002-6415-6560", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/062b9cf737914042946364fcc452a4ba.json"}}, {"family": "Groop", "given": "Per-Henrik", "initials": "PH"}, {"family": "Groop", "given": "Leif", "initials": "L"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI", "orcid": "0000-0002-4393-0510", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/102c7e93640c43c9bbbedd1626adfd7b.json"}}, {"family": "de Andrade", "given": "Mariza", "initials": "M", "orcid": "0000-0003-2329-2686", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8aee7e059484d49a2f574a95fa83bd0.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Hopewell", "given": "Jemma C", "initials": "JC", "orcid": "0000-0002-3870-8018", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/44e022cc0f2745408366a46518263fff.json"}}, {"family": "Colhoun", "given": "Helen M", "initials": "HM", "orcid": "0000-0002-8345-3288", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/31a8c905e2254e38b73ea76cc9fb5fd6.json"}}, {"family": "Kullo", "given": "Iftikhar J", "initials": "IJ", "orcid": "0000-0002-6524-3471", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f9c9f6150b94485b647af70160e18a3.json"}}, {"family": "GoLEAD Consortium, SUMMIT Consortium\u2020", "given": "", "initials": ""}], "type": "journal article", "published": "2021-10-00", "journal": {"title": "Circ Genom Precis Med", "issn": "2574-8300", "volume": "14", "issue": "5", "pages": "e002862", "issn-l": null}, "abstract": "Peripheral artery disease (PAD) affects >200 million people worldwide and is associated with high mortality and morbidity. We sought to identify genomic variants associated with PAD overall and in the contexts of diabetes and smoking status.\n\nWe identified genetic variants associated with PAD and then meta-analyzed with published summary statistics from the Million Veterans Program and UK Biobank to replicate their findings. Next, we ran stratified genome-wide association analysis in ever smokers, never smokers, individuals with diabetes, and individuals with no history of diabetes and corresponding interaction analyses, to identify variants that modify the risk of PAD by diabetic or smoking status.\n\nWe identified 5 genome-wide significant (P \u22645\u00d710association-8) associations with PAD in 449 548 (Ncases=12 086) individuals of European ancestry near LPA (lipoprotein [a]), CDKN2BAS1 (CDKN2B antisense RNA 1), SH2B3 (SH2B adaptor protein 3) - PTPN11 (protein tyrosine phosphatase non-receptor type 11), HDAC9 (histone deacetylase 9), and CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) loci (which overlapped previously reported associations). Meta-analysis with variants previously associated with PAD showed that 18 of 19 published variants remained genome-wide significant. In individuals with diabetes, rs116405693 at the CCSER1 (coiled-coil serine rich protein 1) locus was associated with PAD (odds ratio [95% CI], 1.51 [1.32-1.74], P=2.5\u00d710diabetes-9, P=5.3\u00d710interactionwithdiabetes-7). Furthermore, in smokers, rs12910984 at the CHRNA3 locus was associated with PAD (odds ratio [95% CI], 1.15 [1.11-1.19], P=9.3\u00d710smokers-10, P=3.9\u00d710interactionwithsmoking-5).\n\nOur analyses confirm the published genetic associations with PAD and identify novel variants that may influence susceptibility to PAD in the context of diabetes or smoking status.", "doi": "10.1161/CIRCGEN.119.002862", "pmid": "34601942", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8542067"}], "notes": [], "created": "2026-08-21T12:30:46.736Z", "modified": "2026-08-21T12:30:47.716Z"}]}