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{"family": "Holmes", "given": "Michael V", "initials": "MV"}, {"family": "Cappola", "given": "Thomas P", "initials": "TP", "orcid": "0000-0002-9630-7204", "researcher": {"href": "https://publications.scilifelab.se/researcher/6cc50d241ad14477b91f83e012918181.json"}}, {"family": "Asselbergs", "given": "Folkert W", "initials": "FW", "orcid": "0000-0002-1692-8669", "researcher": {"href": "https://publications.scilifelab.se/researcher/7037429ef1304bdaabd837d242b1e6f5.json"}}, {"family": "Hingorani", "given": "Aroon D", "initials": "AD"}, {"family": "Kuchenbaecker", "given": "Karoline", "initials": "K", "orcid": "0000-0001-9726-603X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4e142157c79648ce96b258ea78019829.json"}}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd513dc49e0945bc8298f72d1244648d.json"}}, {"family": "Lang", "given": "Chim C", "initials": "CC"}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Smith", "given": "J Gustav", "initials": "JG"}, {"family": "Vasan", "given": "Ramachandran S", "initials": "RS", "orcid": "0000-0001-7357-5970", "researcher": {"href": "https://publications.scilifelab.se/researcher/50ceef6f00ea4251a5e1e83cd379a506.json"}}, {"family": "Swerdlow", "given": "Daniel I", "initials": "DI"}, {"family": "Lumbers", "given": "R Thomas", "initials": "RT", "orcid": "0000-0002-9077-4741", "researcher": {"href": "https://publications.scilifelab.se/researcher/a53e4d6591db481f881ec6046d54535b.json"}}], "type": "journal article", "published": "2020-01-09", "journal": {"volume": "11", "issn": "2041-1723", "issue": "1", "pages": "163", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.", "doi": "10.1038/s41467-019-13690-5", "pmid": "31919418", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC6952380"}, {"db": "pii", "key": "10.1038/s41467-019-13690-5"}], "notes": [], "created": "2020-01-14T10:04:57.921Z", "modified": "2023-06-19T13:01:57.741Z"}, {"entity": "publication", "iuid": "8354dd110e2543798223953b699a47c3", "links": {"self": {"href": "https://publications.scilifelab.se/publication/8354dd110e2543798223953b699a47c3.json"}, "display": {"href": "https://publications.scilifelab.se/publication/8354dd110e2543798223953b699a47c3"}}, "title": "New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk", "authors": [{"family": "Lu", "given": "Yingchang", "initials": "Y"}, {"family": "Day", "given": "Felix R", "initials": "FR", 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"Prokopenko", "given": "Inga", "initials": "I", "orcid": "0000-0003-1624-7457", "researcher": {"href": "https://publications.scilifelab.se/researcher/d27906bec5a34e26a3a7a840002ecd08.json"}}, {"family": "Richards", "given": "J Brent", "initials": "JB"}, {"family": "Schadt", "given": "Eric E", "initials": "EE"}, {"family": "Spector", "given": "Tim D", "initials": "TD"}, {"family": "Wid\u00e9n", "given": "Elisabeth", "initials": "E"}, {"family": "Willer", "given": "Cristen J", "initials": "CJ", "orcid": "0000-0001-5645-4966", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3a8e1d33146452b87e7e21eb5339f80.json"}}, {"family": "Yang", "given": "Jian", "initials": "J", "orcid": "0000-0003-2001-2474", "researcher": {"href": "https://publications.scilifelab.se/researcher/99b6239b59ad42248e8f18583b40777a.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL"}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN"}, {"family": "Pospisilik", "given": "John Andrew", "initials": "JA", "orcid": "0000-0002-9745-0977", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e7b352d87ed446e8b3899f6281fa954.json"}}, {"family": "Zillikens", "given": "M Carola", "initials": "MC"}, {"family": "Lindgren", "given": "Cecilia", "initials": "C"}, {"family": "Kilpel\u00e4inen", "given": "Tuomas Oskari", "initials": "TO"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}], "type": "journal-article", "published": "2016-02-01", "journal": {"volume": "7", "issn": "2041-1723", "issue": "1", "pages": "10495", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P<5 \u00d7 10(-8)), of which eight were previously associated with increased overall adiposity (BMI, BF%) and four (in or near COBLL1/GRB14, IGF2BP1, PLA2G6, CRTC1) were novel associations with BF%. Seven loci showed a larger effect on BF% than on BMI, suggestive of a primary association with adiposity, while five loci showed larger effects on BMI than on BF%, suggesting association with both fat and lean mass. In particular, the loci more strongly associated with BF% showed distinct cross-phenotype association signatures with a range of cardiometabolic traits revealing new insights in the link between adiposity and disease risk.", "doi": "10.1038/ncomms10495", "pmid": "26833246", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC4740398"}, {"db": "pii", "key": "ncomms10495"}], "notes": [], "created": "2017-05-03T12:59:57.066Z", "modified": "2024-01-16T13:48:50.482Z"}]}