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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": "9a7ff9dbf92b44adb45071fe7e59718a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9a7ff9dbf92b44adb45071fe7e59718a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9a7ff9dbf92b44adb45071fe7e59718a"}}, "title": "Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.", "authors": [{"family": "Graff", "given": "Mariaelisa", "initials": "M", "orcid": "0000-0001-6380-1735", "researcher": {"href": 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"given": "Yongmei", "initials": "Y"}, {"family": "Linneberg", "given": "Allan", "initials": "A"}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Strauch", "given": "Konstantin", "initials": "K"}, {"family": "Kivim\u00e4ki", "given": "Mika", "initials": "M"}, {"family": "Harris", "given": "Tamara B", "initials": "TB"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V"}, {"family": "V\u00f6lzke", "given": "Henry", "initials": "H"}, {"family": "Qi", "given": "Lu", "initials": "L"}, {"family": "J\u00e4rvelin", "given": "Marjo-Riitta", "initials": "MR"}, {"family": "Chambers", "given": "John C", "initials": "JC"}, {"family": "Kooner", "given": "Jaspal S", "initials": "JS"}, {"family": "Froguel", "given": "Philippe", "initials": "P"}, {"family": "Kooperberg", "given": "Charles", "initials": "C"}, {"family": "Vollenweider", "given": "Peter", "initials": "P"}, {"family": "Hallmans", "given": "G\u00f6ran", "initials": "G"}, {"family": "Hansen", "given": "Torben", "initials": "T"}, {"family": "Pedersen", "given": "Oluf", "initials": "O"}, {"family": "Metspalu", "given": "Andres", "initials": "A"}, {"family": "Wareham", "given": "Nicholas J", "initials": "NJ"}, {"family": "Langenberg", "given": "Claudia", "initials": "C"}, {"family": "Weir", "given": "David R", "initials": "DR"}, {"family": "Porteous", "given": "David J", "initials": "DJ"}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "CHARGE Consortium", "given": "", "initials": ""}, {"family": "EPIC-InterAct Consortium", "given": "", "initials": ""}, {"family": "PAGE Consortium", "given": "", "initials": ""}, {"family": "Abecasis", "given": "Gon\u00e7alo R", "initials": "GR"}, {"family": "Barroso", "given": "In\u00eas", "initials": "I", "orcid": "0000-0001-5800-4520", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/72e641d8461d415e8ab6c96f902b299a.json"}}, {"family": "McCarthy", "given": "Mark I", "initials": "MI"}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "O'Connell", "given": "Jeffrey R", "initials": "JR"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Boehnke", "given": "Michael", "initials": "M"}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL"}, {"family": "Strachan", "given": "David P", "initials": "DP", "orcid": "0000-0001-7854-1366", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d43385a350914b0a843fb49008d108b0.json"}}, {"family": "Fox", "given": "Caroline S", "initials": "CS"}, {"family": "Liu", "given": "Ching-Ti", "initials": "CT", "orcid": "0000-0002-0703-0742", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0df836bc876845a6af66828561f24a27.json"}}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN"}, {"family": "Klein", "given": "Robert J", "initials": "RJ", "orcid": "0000-0003-3539-5391", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1b5e2d49cb3e4c2c8de7eed91e34b46b.json"}}, {"family": "Johnson", "given": "Andrew D", "initials": "AD"}, {"family": "Borecki", "given": "Ingrid B", "initials": "IB"}, {"family": "Franks", "given": "Paul W", "initials": "PW"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Cupples", "given": "L Adrienne", "initials": "LA"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}, {"family": "Kilpel\u00e4inen", "given": "Tuomas O", "initials": "TO"}], "type": "journal article", "published": "2017-04-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "13", "issue": "4", "pages": "e1006528", "issn-l": "1553-7390"}, "abstract": "Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by ~30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive to PA. In additional genome-wide meta-analyses adjusting for PA and interaction with PA, we identify 11 novel adiposity loci, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.", "doi": "10.1371/journal.pgen.1006528", "pmid": "28448500", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5407576"}, {"db": "pii", "key": "PGENETICS-D-16-01816"}], "notes": [], "created": "2018-12-05T09:33:34.193Z", "modified": "2026-09-23T06:36:19.066Z"}, {"entity": "publication", "iuid": "4345b4077e0b460ead8ee5ad891e99f4", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4345b4077e0b460ead8ee5ad891e99f4.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4345b4077e0b460ead8ee5ad891e99f4"}}, "title": "Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation.", "authors": [{"family": "Chu", "given": "Audrey Y", "initials": "AY"}, {"family": "Deng", "given": "Xuan", "initials": "X"}, {"family": "Fisher", "given": "Virginia A", "initials": "VA"}, {"family": "Drong", "given": "Alexander", "initials": "A"}, {"family": "Zhang", "given": "Yang", "initials": "Y"}, {"family": "Feitosa", "given": "Mary F", "initials": "MF"}, {"family": "Liu", "given": "Ching-Ti", "initials": "CT"}, {"family": "Weeks", "given": "Olivia", "initials": "O"}, {"family": "Choh", "given": "Audrey C", "initials": "AC"}, {"family": "Duan", "given": "Qing", "initials": "Q"}, {"family": "Dyer", "given": "Thomas D", "initials": "TD"}, {"family": "Eicher", "given": "John D", "initials": "JD"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Heard-Costa", "given": "Nancy L", "initials": "NL", "orcid": "0000-0001-9730-0306", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1da6a04aae7641359b0658b21cbf52a1.json"}}, {"family": "Kacprowski", "given": "Tim", "initials": "T", "orcid": "0000-0002-5393-2413", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc9e383452c547d0a4b38cb1e28eb58e.json"}}, {"family": "Kent", "given": "Jack W", "initials": "JW"}, {"family": "Lange", "given": "Leslie A", "initials": "LA"}, {"family": "Liu", "given": "Xinggang", "initials": "X"}, {"family": "Lohman", "given": "Kurt", "initials": "K"}, {"family": "Lu", "given": "Lingyi", "initials": "L"}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "O'Connell", "given": "Jeffrey R", "initials": "JR"}, {"family": "Parihar", "given": "Ankita", "initials": "A"}, {"family": "Peralta", "given": "Juan M", "initials": "JM"}, {"family": "Smith", "given": "Albert V", "initials": "AV", "orcid": "0000-0003-1942-5845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/51752e0d35a74befa66a65b95ceaad38.json"}}, {"family": "Zhang", "given": "Yi", "initials": "Y"}, {"family": "Homuth", "given": "Georg", "initials": "G"}, {"family": "Kissebah", "given": "Ahmed H", "initials": "AH"}, {"family": "Kullberg", "given": "Joel", "initials": "J"}, {"family": "Laqua", "given": "Ren\u00e9", "initials": "R"}, {"family": "Launer", "given": "Lenore J", "initials": "LJ"}, {"family": "Nauck", "given": "Matthias", "initials": "M"}, {"family": "Olivier", "given": "Michael", "initials": "M"}, {"family": "Peyser", "given": "Patricia A", "initials": "PA"}, {"family": "Terry", "given": "James G", "initials": "JG"}, {"family": "Wojczynski", "given": "Mary K", "initials": "MK"}, {"family": "Yao", "given": "Jie", "initials": "J"}, {"family": "Bielak", "given": "Lawrence F", "initials": "LF"}, {"family": "Blangero", "given": "John", "initials": "J"}, {"family": "Borecki", "given": "Ingrid B", "initials": "IB"}, {"family": "Bowden", "given": "Donald W", "initials": "DW"}, {"family": "Carr", "given": "John Jeffrey", "initials": "JJ", "orcid": "0000-0002-4398-8237", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bb4612fb9dbd4f23adffd1ac3f9d96bb.json"}}, {"family": "Czerwinski", "given": "Stefan A", "initials": "SA"}, {"family": "Ding", "given": "Jingzhong", "initials": "J"}, {"family": "Friedrich", "given": "Nele", "initials": "N"}, {"family": "Gudnason", "given": "Vilmunder", "initials": "V"}, {"family": "Harris", "given": "Tamara B", "initials": "TB"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Johnson", "given": "Andrew D", "initials": "AD"}, {"family": "Kardia", "given": "Sharon L R", "initials": "SL"}, {"family": "Langefeld", "given": "Carl D", "initials": "CD"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Liu", "given": "Yongmei", "initials": "Y"}, {"family": "Mitchell", "given": "Braxton D", "initials": "BD"}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Mosley", "given": "Thomas H", "initials": "TH"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Shuldiner", "given": "Alan R", "initials": "AR"}, {"family": "Towne", "given": "Bradford", "initials": "B"}, {"family": "V\u00f6lzke", "given": "Henry", "initials": "H"}, {"family": "Wallaschofski", "given": "Henri", "initials": "H"}, {"family": "Wilson", "given": "James G", "initials": "JG"}, {"family": "Allison", "given": "Matthew", "initials": "M"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Goessling", "given": "Wolfram", "initials": "W", "orcid": "0000-0001-9972-1569", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f15d4cf2691b43f6a6bbb52f7fe31ace.json"}}, {"family": "Cupples", "given": "L Adrienne", "initials": "LA"}, {"family": "Steinhauser", "given": "Matthew L", "initials": "ML"}, {"family": "Fox", "given": "Caroline S", "initials": "CS"}], "type": "journal article", "published": "2017-01-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "49", "issue": "1", "pages": "125-130", "issn-l": "1061-4036"}, "abstract": "Variation in body fat distribution contributes to the metabolic sequelae of obesity. The genetic determinants of body fat distribution are poorly understood. The goal of this study was to gain new insights into the underlying genetics of body fat distribution by conducting sample-size-weighted fixed-effects genome-wide association meta-analyses in up to 9,594 women and 8,738 men of European, African, Hispanic and Chinese ancestry, with and without sex stratification, for six traits associated with ectopic fat (hereinafter referred to as ectopic-fat traits). In total, we identified seven new loci associated with ectopic-fat traits (ATXN1, UBE2E2, EBF1, RREB1, GSDMB, GRAMD3 and ENSA; P < 5 \u00d7 10-8; false discovery rate < 1%). Functional analysis of these genes showed that loss of function of either Atxn1 or Ube2e2 in primary mouse adipose progenitor cells impaired adipocyte differentiation, suggesting physiological roles for ATXN1 and UBE2E2 in adipogenesis. Future studies are necessary to further explore the mechanisms by which these genes affect adipocyte biology and how their perturbations contribute to systemic metabolic disease.", "doi": "10.1038/ng.3738", "pmid": "27918534", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS859697"}, {"db": "pmc", "key": "PMC5451114"}, {"db": "pii", "key": "ng.3738"}], "notes": [], "created": "2018-12-05T09:48:12.544Z", "modified": "2026-09-23T07:29:05.962Z"}]}