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"initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/179eb6511eba4d33b633599c5652e344.json"}}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM", "orcid": "0000-0002-4903-9374", "researcher": {"href": "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": "97d5cba657f64e718f143b5b23f7076e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/97d5cba657f64e718f143b5b23f7076e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/97d5cba657f64e718f143b5b23f7076e"}}, "title": "Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.", "authors": [{"family": "Turcot", "given": "Val\u00e9rie", "initials": "V"}, {"family": 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Scientific Group", "given": "", "initials": ""}], "type": "journal article", "published": "2018-05-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "5", "pages": "766-767", "issn-l": "1061-4036"}, "abstract": "In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA) was incorrectly assigned to author Wei Zhou. The errors have been corrected in the HTML and PDF versions of the article.", "doi": "10.1038/s41588-018-0082-3", "pmid": "29549330", "labels": [], "xrefs": [{"db": "pii", "key": "10.1038/s41588-018-0082-3"}], "notes": [], "created": "2026-09-23T13:50:40.609Z", "modified": "2026-09-23T13:50:40.716Z"}, {"entity": "publication", "iuid": "c032a968652c4d4986098086c4bed776", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/c032a968652c4d4986098086c4bed776.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/c032a968652c4d4986098086c4bed776"}}, "title": "Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.", "authors": [{"family": "Turcot", "given": "Val\u00e9rie", "initials": "V"}, {"family": "Lu", "given": "Yingchang", "initials": "Y"}, {"family": "Highland", "given": "Heather M", "initials": "HM"}, {"family": 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"initials": "P"}, {"family": "Yerges-Armstrong", "given": "Laura M", "initials": "LM"}, {"family": "Young", "given": "Robin", "initials": "R"}, {"family": "Zeggini", "given": "Eleftheria", "initials": "E", "orcid": "0000-0003-4238-659X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/94df27518bb34428a8b1f8f2b278d778.json"}}, {"family": "Zhan", "given": "Xiaowei", "initials": "X"}, {"family": "Zhang", "given": "Weihua", "initials": "W"}, {"family": "Zhao", "given": "Jing Hua", "initials": "JH"}, {"family": "Zhao", "given": "Wei", "initials": "W", "orcid": "0000-0002-8301-9297", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/403581c64e2f47a7b17a3ee9c656a558.json"}}, {"family": "Zhou", "given": "Wei", "initials": "W"}, {"family": "Zondervan", "given": "Krina T", "initials": "KT", "orcid": "0000-0002-0275-9905", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d30173f309c3460b80b698c8b89c5827.json"}}, {"family": "CHD Exome+ 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": "EPIC\u00a0InterAct\u00a0Consortium", "given": "", "initials": ""}, {"family": "INTERVAL Study", "given": "", "initials": ""}, {"family": "ReproGen Consortium", "given": "", "initials": ""}, {"family": "T2D-Genes Consortium", "given": "", "initials": ""}, {"family": "MAGIC Investigators", "given": "", "initials": ""}, {"family": "Understanding Society Scientific Group", "given": "", "initials": ""}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Pospisilik", "given": "John A", "initials": "JA", "orcid": "0000-0002-9745-0977", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14d3d158e450498cb3900c4e4cab5c01.json"}}, {"family": "Rivadeneira", "given": "Fernando", "initials": "F", "orcid": "0000-0001-9435-9441", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/052747cd28af4c308b064e88005985a2.json"}}, {"family": "Borecki", "given": "Ingrid B", "initials": "IB"}, {"family": "Deloukas", "given": "Panos", "initials": "P", "orcid": "0000-0001-9251-070X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d034d0cd32a84b959bd29f8ef8c91979.json"}}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Lettre", "given": "Guillaume", "initials": "G"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}], "type": "journal article", "published": "2018-01-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "1", "pages": "26-41", "issn-l": "1061-4036"}, "abstract": "Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.", "doi": "10.1038/s41588-017-0011-x", "pmid": "29273807", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS920811"}, {"db": "pmc", "key": "PMC5945951"}, {"db": "pii", "key": "10.1038/s41588-017-0011-x"}], "notes": [], "created": "2018-12-05T11:24:59.969Z", "modified": "2026-09-23T06:34:04.318Z"}, {"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", 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"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"}]}