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"Michael", "initials": "M"}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI"}, {"family": "Meigs", "given": "James B", "initials": "JB"}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "Scott", "given": "Robert A", "initials": "RA"}, {"family": "Gloyn", "given": "Anna L", "initials": "AL", "orcid": "0000-0003-1205-1844", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dfab778605a4478c973fbb49a8884ce3.json"}}, {"family": "Barroso", "given": "In\u00eas", "initials": "I", "orcid": "0000-0001-5800-4520", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/72e641d8461d415e8ab6c96f902b299a.json"}}], "type": "journal article", "published": "2023-10-20", "journal": {"title": "Wellcome Open Res", "issn": "2398-502X", "volume": "8", "pages": "483", "issn-l": null}, "abstract": "Genome-wide association studies for glycemic traits have identified hundreds of loci associated with these biomarkers of glucose homeostasis. Despite this success, the challenge remains to link variant associations to genes, and underlying biological pathways.\n\nTo identify coding variant associations which may pinpoint effector genes at both novel and previously established genome-wide association loci, we performed meta-analyses of exome-array studies for four glycemic traits: glycated hemoglobin (HbA1c, up to 144,060 participants), fasting glucose (FG, up to 129,665 participants), fasting insulin (FI, up to 104,140) and 2hr glucose post-oral glucose challenge (2hGlu, up to 57,878). In addition, we performed network and pathway analyses.\n\nSingle-variant and gene-based association analyses identified coding variant associations at more than 60 genes, which when combined with other datasets may be useful to nominate effector genes. Network and pathway analyses identified pathways related to insulin secretion, zinc transport and fatty acid metabolism. HbA1c associations were strongly enriched in pathways related to blood cell biology.\n\nOur results provided novel glycemic trait associations and highlighted pathways implicated in glycemic regulation. Exome-array summary statistic results are being made available to the scientific community to enable further discoveries.", "doi": "10.12688/wellcomeopenres.18754.1", "pmid": "39280063", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11399760"}], "notes": [], "created": "2026-09-23T11:33:06.209Z", "modified": "2026-09-23T11:33:06.808Z"}, {"entity": "publication", "iuid": "a47af805c5644d568e267461ae8e9f42", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a47af805c5644d568e267461ae8e9f42.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a47af805c5644d568e267461ae8e9f42"}}, "title": "Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.", "authors": [{"family": "Justice", "given": "Anne E", "initials": "AE"}, {"family": "Karaderi", "given": "Tugce", "initials": "T"}, {"family": "Highland", "given": "Heather M", "initials": "HM"}, {"family": "Young", "given": "Kristin L", "initials": "KL", "orcid": "0000-0003-0070-6145", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a317f8776f149dabff61ef11aab6d74.json"}}, {"family": "Graff", "given": "Mariaelisa", "initials": "M"}, {"family": "Lu", "given": "Yingchang", "initials": "Y"}, {"family": "Turcot", "given": "Val\u00e9rie", "initials": "V"}, {"family": "Auer", "given": "Paul L", "initials": "PL"}, {"family": "Fine", "given": "Rebecca S", "initials": "RS"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Schurmann", "given": "Claudia", "initials": "C"}, {"family": "Lempradl", "given": "Adelheid", "initials": "A"}, {"family": "Marouli", "given": "Eirini", "initials": "E"}, {"family": "Mahajan", "given": "Anubha", "initials": "A", "orcid": "0000-0001-5585-3420", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/41b3d44662484e0289f07fa25d045cf4.json"}}, {"family": "Winkler", "given": "Thomas W", "initials": "TW", "orcid": "0000-0003-0292-5421", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b1511736ab1f4f3cab1a2ccef342db34.json"}}, {"family": "Locke", "given": "Adam E", "initials": "AE", "orcid": "0000-0001-6227-198X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2acdb3f67772472ea95cb2316e006555.json"}}, {"family": "Medina-Gomez", "given": "Carolina", "initials": "C", "orcid": "0000-0001-7999-5538", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81b3600248dc46fda07e549541aa047c.json"}}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T"}, {"family": "Vedantam", "given": "Sailaja", "initials": "S"}, {"family": "Giri", "given": "Ayush", "initials": "A", "orcid": "0000-0002-7786-4670", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/424e945c81e14434a13205bdd2e986ac.json"}}, {"family": "Lo", "given": "Ken Sin", "initials": "KS"}, {"family": "Alfred", 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"https://publications-affiliated.scilifelab.se/researcher/b5c82df5e7bc43e4874726fb16924cf5.json"}}, {"family": "CHD Exome+ Consortium", "given": "", "initials": ""}, {"family": "Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium", "given": "", "initials": ""}, {"family": "EPIC-CVD Consortium", "given": "", "initials": ""}, {"family": "ExomeBP Consortium", "given": "", "initials": ""}, {"family": "Global Lipids Genetic Consortium", "given": "", "initials": ""}, {"family": "GoT2D Genes Consortium", "given": "", "initials": ""}, {"family": "InterAct", "given": "", "initials": ""}, {"family": "ReproGen Consortium", "given": "", "initials": ""}, {"family": "T2D-Genes Consortium", "given": "", "initials": ""}, {"family": "MAGIC Investigators", "given": "", "initials": ""}], "type": "journal article", "published": "2019-03-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "51", "issue": "3", "pages": "452-469", "issn-l": "1061-4036"}, "abstract": "Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF \u22655%) and nine low-frequency or rare (MAF <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.", "doi": "10.1038/s41588-018-0334-2", "pmid": "30778226", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1016010"}, {"db": "pmc", "key": "PMC6560635"}, {"db": "pii", "key": "10.1038/s41588-018-0334-2"}], "notes": [], "created": "2026-09-23T07:38:33.413Z", "modified": "2026-09-23T07:38:34.499Z"}, {"entity": "publication", "iuid": "8fd0370dd27241dfaeb90c51aa701cec", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/8fd0370dd27241dfaeb90c51aa701cec.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/8fd0370dd27241dfaeb90c51aa701cec"}}, "title": "Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.", "authors": [{"family": "Flannick", "given": "Jason", "initials": "J"}, {"family": "Fuchsberger", "given": "Christian", "initials": "C"}, {"family": 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"Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Meigs", "given": "James B", "initials": "JB"}, {"family": "Cox", "given": "Nancy J", "initials": "NJ"}, {"family": "Sladek", "given": "Rob", "initials": "R"}, {"family": "Lander", "given": "Eric S", "initials": "ES"}, {"family": "Gabriel", "given": "Stacey", "initials": "S"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fac0e041c56347fe98cef9ae8f004b67.json"}}, {"family": "Meitinger", "given": "Thomas", "initials": "T"}, {"family": "Groop", "given": "Leif", "initials": "L", "orcid": "0000-0002-0187-3263", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6b549c1ef49648bf81c481bc88857552.json"}}, {"family": "Abecasis", "given": "Goncalo", "initials": "G"}, {"family": "Scott", "given": "Laura J", "initials": "LJ"}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Kang", "given": "Hyun Min", "initials": "HM"}, {"family": "Altshuler", "given": "David", "initials": "D"}, {"family": "Burtt", "given": "No\u00ebl P", "initials": "NP"}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Boehnke", "given": "Michael", "initials": "M"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI"}], "type": "dataset", "published": "2017-12-19", "journal": {"title": "Sci Data", "issn": "2052-4463", "volume": "4", "issue": null, "pages": "170179", "issn-l": "2052-4463"}, "abstract": "To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.", "doi": "10.1038/sdata.2017.179", "pmid": "29257133", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5735917"}, {"db": "pii", "key": "sdata2017179"}], "notes": [], "created": "2018-12-05T12:07:44.419Z", "modified": "2026-09-23T13:42:52.990Z"}]}