{"entity": "researcher", "timestamp": "2026-08-15T07:02:51.074Z", "family": "Shah", "given": "Sonia", "initials": "S", "orcid": "0000-0001-5860-4526", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/c6a8568b3cae476199b27818eeb19e4d.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/c6a8568b3cae476199b27818eeb19e4d"}}, "publications": [{"entity": "publication", "iuid": "05dfc96807f64f37a3917f85f1198b7e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/05dfc96807f64f37a3917f85f1198b7e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/05dfc96807f64f37a3917f85f1198b7e"}}, "title": "Whole genome sequencing in early onset advanced heart failure.", "authors": [{"family": "Linn\u00e9r", "given": "Erik", "initials": "E", "orcid": "0009-0004-6961-8957", "researcher": {"href": "https://publications.scilifelab.se/researcher/666959db0ed3435ab374dcbd50cb9925.json"}}, {"family": "Czuba", "given": "Tomasz", "initials": "T"}, {"family": "Gidl\u00f6f", "given": "Olof", "initials": "O", "orcid": "0000-0002-7402-3139", "researcher": {"href": "https://publications.scilifelab.se/researcher/83f5453e507041b995e0d69a74540c24.json"}}, {"family": "Lundgren", "given": "Jakob", "initials": "J", "orcid": "0000-0001-9338-2906", "researcher": {"href": "https://publications.scilifelab.se/researcher/c929a6ea1c6f4975ad0ec84da3a32f5e.json"}}, {"family": "Bollano", "given": "Entela", "initials": "E", "orcid": "0000-0003-3341-2434", "researcher": {"href": "https://publications.scilifelab.se/researcher/f486393025c0406bbf6c397b7d1b6f05.json"}}, {"family": "Hellberg", "given": "Maria", "initials": "M"}, {"family": "Celik", "given": "Selvi", "initials": "S", "orcid": "0000-0001-7032-3444", "researcher": {"href": "https://publications.scilifelab.se/researcher/5da057ac725d4fb0bdbaddbc06a8ea64.json"}}, {"family": "Pimpalwar", "given": "Neha", "initials": "N"}, {"family": "Rentzsch", "given": "Philipp", "initials": "P", "orcid": "0000-0002-0413-7974", "researcher": {"href": "https://publications.scilifelab.se/researcher/372fb956b5634de493dd639dae9e8158.json"}}, {"family": "Martorella", "given": "Molly", "initials": "M", "orcid": "0000-0002-3306-6650", "researcher": {"href": "https://publications.scilifelab.se/researcher/64e0f833822b463b9736178d9a25c861.json"}}, {"family": "Gummesson", "given": "Anders", "initials": "A", "orcid": "0000-0003-0024-960X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb164de27f2846328bb675876922a5fe.json"}}, {"family": "Melander", "given": "Olle", "initials": "O", "orcid": "0000-0002-2581-484X", "researcher": {"href": "https://publications.scilifelab.se/researcher/868a7e41aa054097a85575aa1d9658cc.json"}}, {"family": "Albinsson", "given": "Sebastian", "initials": "S", "orcid": "0000-0001-6936-3967", "researcher": {"href": "https://publications.scilifelab.se/researcher/ac577769c2d44ac7bd8ccc28f69045de.json"}}, {"family": "Dellgren", "given": "G\u00f6ran", "initials": "G", "orcid": "0000-0003-4961-9704", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d5ee559ab58458197bab1d119a50824.json"}}, {"family": "Bor\u00e9n", "given": "Jan", "initials": "J", "orcid": "0000-0003-0786-8091", "researcher": {"href": "https://publications.scilifelab.se/researcher/1e85f6d287ce4c60a7b35b287efb4f79.json"}}, {"family": "Jeppsson", "given": "Anders", "initials": "A", "orcid": "0000-0003-2356-2295", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ec361c8c3f84b25a44213af77f4ac31.json"}}, {"family": "Lumbers", "given": "R Thomas", "initials": "RT", "orcid": "0000-0002-9077-4741", "researcher": {"href": "https://publications.scilifelab.se/researcher/a53e4d6591db481f881ec6046d54535b.json"}}, {"family": "Shah", "given": "Sonia", "initials": "S", "orcid": "0000-0001-5860-4526", "researcher": {"href": "https://publications.scilifelab.se/researcher/c6a8568b3cae476199b27818eeb19e4d.json"}}, {"family": "Nilsson", "given": "Johan", "initials": "J", "orcid": "0000-0001-6860-6090", "researcher": {"href": "https://publications.scilifelab.se/researcher/c07e3381e15b4806b77d1b575e4ddca2.json"}}, {"family": "Natarajan", "given": "Pradeep", "initials": "P", "orcid": "0000-0001-8402-7435", "researcher": {"href": "https://publications.scilifelab.se/researcher/85de5f6926c94fbd96bbc9428b6a384f.json"}}, {"family": "Lappalainen", "given": "Tuuli", "initials": "T", "orcid": "0000-0002-7746-8109", "researcher": {"href": "https://publications.scilifelab.se/researcher/a1f81f8a2e6f4f11ad4504746492fc41.json"}}, {"family": "Levin", "given": "Malin", "initials": "M", "orcid": "0000-0003-1069-5275", "researcher": {"href": "https://publications.scilifelab.se/researcher/8d251e6a73fb49bcbd930f7ec8bd274c.json"}}, {"family": "Ehrencrona", "given": "Hans", "initials": "H", "orcid": "0000-0002-5589-3622", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b89608a8ce941c3b9911630b4ff9720.json"}}, {"family": "Smith", "given": "J Gustav", "initials": "JG", "orcid": "0000-0001-6285-9935", "researcher": {"href": "https://publications.scilifelab.se/researcher/26e50df6bb7f4194a52546dbd5652e84.json"}}], "type": "journal article", "published": "2025-02-05", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "15", "issue": "1", "pages": "4306", "issn-l": "2045-2322"}, "abstract": "The genetic contributions to early onset heart failure (HF) are incompletely understood. Genetic testing in advanced HF patients undergoing heart transplantation (HTx) may yield clinical benefits, but data is limited. We performed deep-coverage whole genome sequencing (WGS) in 102 Swedish HTx recipients. Gene lists were compiled through a systematic literature review. Variants were prioritized for pathogenicity and classified manually. We also compared polygenic HF risk scores to a population-based cohort. We found a pathogenic (LP/P) variant in 34 individuals (34%). Testing yield was highest in hypertrophic (63% LP/P carriers), dilated (40%) and arrhythmogenic right ventricular (33%) cardiomyopathy and lower in ischemic cardiomyopathy (10%). A family history was more common in LP/P variant carriers than in non-carriers but was present in less than half of carriers (44% vs 13%, P < 0.001), whereas age was similar. Polygenic risk scores were similar in HTx recipients and the population cohort. In conclusion, we observed a high prevalence of pathogenic cardiomyopathy gene variants in individuals with early-onset advanced HF, which could not accurately be ruled out by family history and age. In contrast, we did not observe higher polygenic risk scores in early onset advanced HF cases than in the general population.", "doi": "10.1038/s41598-025-88465-8", "pmid": "39910139", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI Short read": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11799378"}, {"db": "pii", "key": "10.1038/s41598-025-88465-8"}], "notes": [], "created": "2025-02-11T07:01:17.258Z", "modified": "2025-02-11T07:01:20.425Z"}, {"entity": "publication", "iuid": "7ece5c90f5a84512a7eef65aed76aed2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7ece5c90f5a84512a7eef65aed76aed2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7ece5c90f5a84512a7eef65aed76aed2"}}, "title": "Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.", "authors": [{"family": "Shah", "given": "Sonia", "initials": "S", "orcid": "0000-0001-5860-4526", "researcher": {"href": "https://publications.scilifelab.se/researcher/c6a8568b3cae476199b27818eeb19e4d.json"}}, {"family": "Henry", "given": "Albert", "initials": "A", "orcid": "0000-0001-7422-2288", "researcher": {"href": "https://publications.scilifelab.se/researcher/9b1557b87fc542eb8e4d7b733e5b79dc.json"}}, {"family": "Roselli", "given": "Carolina", "initials": "C", "orcid": "0000-0001-5267-6756", "researcher": {"href": "https://publications.scilifelab.se/researcher/1dd28aad250f42719d505c21ed76013b.json"}}, {"family": "Lin", "given": "Honghuang", "initials": "H", "orcid": "0000-0003-3043-3942", "researcher": {"href": "https://publications.scilifelab.se/researcher/9bc2f1e6bb1140dfa054376eac685d5e.json"}}, {"family": "Sveinbj\u00f6rnsson", "given": "Gar\u00f0ar", "initials": "G"}, {"family": "Fatemifar", "given": "Ghazaleh", "initials": "G"}, {"family": "Hedman", "given": "\u00c5sa K", "initials": "\u00c5K"}, {"family": "Wilk", "given": "Jemma B", "initials": "JB"}, {"family": "Morley", "given": "Michael P", "initials": "MP"}, {"family": "Chaffin", "given": "Mark D", "initials": "MD", "orcid": "0000-0002-1234-5562", "researcher": {"href": "https://publications.scilifelab.se/researcher/c73477de5ca0468ab051fd6eab7bad81.json"}}, {"family": "Helgadottir", "given": "Anna", "initials": "A", "orcid": "0000-0002-1806-2467", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b5de2b760674dbfba05df40af0eb38f.json"}}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications.scilifelab.se/researcher/7306319d42a640a483b937de588a17a4.json"}}, {"family": "Dehghan", "given": "Abbas", "initials": "A"}, {"family": "Almgren", "given": "Peter", "initials": "P", "orcid": "0000-0002-0473-0241", "researcher": {"href": "https://publications.scilifelab.se/researcher/8c1a61189c4846eaa1de74d1fd79c8bb.json"}}, {"family": "Andersson", "given": "Charlotte", "initials": "C"}, {"family": "Aragam", "given": "Krishna G", "initials": "KG"}, {"family": "\u00c4rnl\u00f6v", "given": "Johan", "initials": "J"}, {"family": "Backman", "given": "Joshua D", "initials": "JD"}, {"family": "Biggs", "given": "Mary L", "initials": "ML"}, {"family": "Bloom", "given": "Heather L", "initials": "HL"}, {"family": "Brandimarto", "given": "Jeffrey", "initials": "J"}, {"family": "Brown", "given": "Michael R", "initials": "MR"}, {"family": "Buckbinder", "given": "Leonard", "initials": "L"}, {"family": "Carey", "given": "David J", "initials": "DJ"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Chen", "given": "Xing", "initials": "X", "orcid": "0000-0002-7299-3238", "researcher": {"href": "https://publications.scilifelab.se/researcher/9d354d5ca83c4059b8151c8e67b99405.json"}}, {"family": "Chen", "given": "Xu", "initials": "X", "orcid": "0000-0002-7299-3238", "researcher": {"href": "https://publications.scilifelab.se/researcher/9d354d5ca83c4059b8151c8e67b99405.json"}}, {"family": "Chung", "given": "Jonathan", "initials": "J"}, {"family": "Chutkow", "given": "William", "initials": "W"}, {"family": "Cook", "given": "James P", "initials": "JP"}, {"family": "Delgado", "given": "Graciela E", "initials": "GE"}, {"family": "Denaxas", "given": "Spiros", "initials": "S"}, {"family": "Doney", "given": "Alexander S", "initials": "AS"}, {"family": "D\u00f6rr", "given": "Marcus", "initials": "M"}, {"family": "Dudley", "given": "Samuel C", "initials": "SC"}, {"family": "Dunn", "given": "Michael E", "initials": "ME"}, {"family": "Engstr\u00f6m", "given": "Gunnar", "initials": "G"}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T"}, {"family": "Felix", "given": "Stephan B", "initials": "SB"}, {"family": "Finan", "given": "Chris", "initials": "C"}, {"family": "Ford", "given": "Ian", "initials": "I"}, {"family": "Ghanbari", "given": "Mohsen", "initials": "M", "orcid": "0000-0002-9476-7143", "researcher": {"href": "https://publications.scilifelab.se/researcher/52ef9606de1144c994e0e854c5a85569.json"}}, {"family": "Ghasemi", "given": "Sahar", "initials": "S"}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V", "orcid": "0000-0003-3423-2021", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c95879213664e00b66aeee2e8ece975.json"}}, {"family": "Giulianini", "given": "Franco", "initials": "F"}, {"family": "Gottdiener", "given": "John S", "initials": "JS"}, {"family": "Gross", "given": "Stefan", "initials": "S", "orcid": "0000-0003-4121-7161", "researcher": {"href": "https://publications.scilifelab.se/researcher/fde6335a99264403a7f4d01ae7195ebe.json"}}, {"family": "Gu\u00f0bjartsson", "given": "Dan\u00edel F", "initials": "DF", "orcid": "0000-0002-5222-9857", "researcher": {"href": "https://publications.scilifelab.se/researcher/e41ffdc303534408aade6e4a071e4801.json"}}, {"family": "Gutmann", "given": "Rebecca", "initials": "R"}, {"family": "Haggerty", "given": "Christopher M", "initials": "CM"}, {"family": "van der Harst", "given": "Pim", "initials": "P"}, {"family": "Hyde", "given": "Craig L", "initials": "CL", "orcid": "0000-0002-6939-287X", "researcher": {"href": "https://publications.scilifelab.se/researcher/587e7b89272548abbc9eab014c66a21e.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E", "orcid": "0000-0003-2256-6972", "researcher": {"href": "https://publications.scilifelab.se/researcher/689bc741ea6547d18de7080c84d0193e.json"}}, {"family": "Jukema", "given": "J Wouter", "initials": "JW", "orcid": "0000-0002-3246-8359", "researcher": {"href": "https://publications.scilifelab.se/researcher/0479b794031d4df7bed96340b3470c19.json"}}, {"family": "Kavousi", "given": "Maryam", "initials": "M"}, {"family": "Khaw", "given": "Kay-Tee", "initials": "KT"}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": "0000-0003-0663-7275", "researcher": {"href": "https://publications.scilifelab.se/researcher/a51175112cfb4721b8c9fbfdc71c4307.json"}}, {"family": "K\u00f8ber", "given": "Lars", "initials": "L"}, {"family": "Koekemoer", "given": "Andrea", "initials": "A", "orcid": "0000-0001-8222-3547", "researcher": {"href": "https://publications.scilifelab.se/researcher/74525ced82a7490d939b480e07fadfdd.json"}}, {"family": "Langenberg", "given": "Claudia", "initials": "C", "orcid": "0000-0002-5017-7344", "researcher": {"href": "https://publications.scilifelab.se/researcher/ca19370bb4d6437aa9df3905db9d3dd2.json"}}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM", "orcid": "0000-0002-4903-9374", "researcher": {"href": "https://publications.scilifelab.se/researcher/822d2f2a99814a7498f19976ed6381ef.json"}}, {"family": "London", "given": "Barry", "initials": "B"}, {"family": "Lotta", "given": "Luca A", "initials": "LA"}, {"family": "Lovering", "given": "Ruth C", "initials": "RC", "orcid": "0000-0002-9791-0064", "researcher": {"href": "https://publications.scilifelab.se/researcher/a78c516158c844798199333ff183aaca.json"}}, {"family": "Luan", "given": "Jian'an", "initials": "J", "orcid": "0000-0003-3137-6337", "researcher": {"href": "https://publications.scilifelab.se/researcher/7f0ea409f1a2462dbb1b266db8fcc33a.json"}}, {"family": "Magnusson", "given": "Patrik", "initials": "P", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "Mahajan", "given": "Anubha", "initials": "A", "orcid": "0000-0001-5585-3420", "researcher": {"href": "https://publications.scilifelab.se/researcher/194be8a851164e2ea4d004dd2febc9be.json"}}, {"family": "Margulies", "given": "Kenneth B", "initials": "KB"}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Mordi", "given": "Ify R", "initials": "IR", "orcid": "0000-0002-2686-729X", "researcher": {"href": "https://publications.scilifelab.se/researcher/1081c6ce996d4f7e944be05db1a3e7c0.json"}}, {"family": "Morgan", "given": "Thomas", "initials": "T"}, {"family": "Morris", "given": "Andrew D", "initials": "AD", "orcid": "0000-0002-1766-0473", "researcher": {"href": "https://publications.scilifelab.se/researcher/60e389cd1f5f45298f38b4619c0859c3.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Morrison", "given": "Alanna C", "initials": "AC"}, {"family": "Nagle", "given": "Michael W", "initials": "MW", "orcid": "0000-0002-4677-7582", "researcher": {"href": "https://publications.scilifelab.se/researcher/5da07a509b1740648199997ee5ea73a3.json"}}, {"family": "Nelson", "given": "Christopher P", "initials": "CP", "orcid": "0000-0001-8025-2897", "researcher": {"href": "https://publications.scilifelab.se/researcher/9cac4df8cd7241558b51f2abdc1c28eb.json"}}, {"family": "Niessner", "given": "Alexander", "initials": "A"}, {"family": "Niiranen", "given": "Teemu", "initials": "T"}, {"family": "O'Donoghue", "given": "Michelle L", "initials": "ML"}, {"family": "Owens", "given": "Anjali T", "initials": "AT"}, {"family": "Palmer", "given": "Colin N A", "initials": "CNA", "orcid": "0000-0002-6415-6560", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a0f019dcb7a453a84480953a5514dd5.json"}}, {"family": "Parry", "given": "Helen M", "initials": "HM"}, {"family": "Perola", "given": "Markus", "initials": "M"}, {"family": "Portilla-Fernandez", "given": "Eliana", "initials": "E"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Regeneron Genetics Center", "given": "", "initials": ""}, {"family": "Rice", "given": "Kenneth M", "initials": "KM", "orcid": "0000-0002-3071-7278", "researcher": {"href": "https://publications.scilifelab.se/researcher/5affb61f3ef141e8a6e7c7bfd2477ae3.json"}}, {"family": "Ridker", "given": "Paul M", "initials": "PM"}, {"family": "Romaine", "given": "Simon P R", "initials": "SPR"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI", "orcid": "0000-0001-7191-1723", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e9bdbf58ae94fc8b455bbbcbcaa50ce.json"}}, {"family": "Salo", "given": "Perttu", "initials": "P"}, {"family": "Salomaa", "given": "Veikko", "initials": "V", "orcid": "0000-0001-7563-5324", "researcher": {"href": "https://publications.scilifelab.se/researcher/f2396c578c254e39b66538c3033c9ce9.json"}}, {"family": "van Setten", "given": "Jessica", "initials": "J", "orcid": "0000-0002-4934-7510", "researcher": {"href": "https://publications.scilifelab.se/researcher/4be6dce84e8a4f46bf15f4de178f70ba.json"}}, {"family": "Shalaby", "given": "Alaa A", "initials": "AA"}, {"family": "Smelser", "given": "Diane T", "initials": "DT"}, {"family": "Smith", "given": "Nicholas L", "initials": "NL"}, {"family": "Stender", "given": "Steen", "initials": "S"}, {"family": "Stott", "given": "David J", "initials": "DJ"}, {"family": "Svensson", "given": "Per", "initials": "P", "orcid": "0000-0003-0372-6272", "researcher": {"href": "https://publications.scilifelab.se/researcher/199e569cd05e456488ead34240b91c5b.json"}}, {"family": "Tammesoo", "given": "Mari-Liis", "initials": "ML"}, {"family": "Taylor", "given": "Kent D", "initials": "KD", "orcid": "0000-0002-2756-4370", "researcher": {"href": "https://publications.scilifelab.se/researcher/6f5450c63d194100ab6cda3b83250fc7.json"}}, {"family": "Teder-Laving", "given": "Maris", "initials": "M", "orcid": "0000-0002-5872-1850", "researcher": {"href": "https://publications.scilifelab.se/researcher/f27feb6c2c23492bb1e442116d0ba49e.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}, {"family": "Thorgeirsson", "given": "Gu\u00f0mundur", "initials": "G"}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Torp-Pedersen", "given": "Christian", "initials": "C"}, {"family": "Trompet", "given": "Stella", "initials": "S"}, {"family": "Tyl", "given": "Benoit", "initials": "B", "orcid": "0000-0001-5297-8412", "researcher": {"href": "https://publications.scilifelab.se/researcher/4e192aa671144e20916948eaadc4b738.json"}}, {"family": "Uitterlinden", "given": "Andre G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications.scilifelab.se/researcher/273577b238854023a9dffe34dabc3551.json"}}, {"family": "Veluchamy", "given": "Abirami", "initials": "A"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U", "orcid": "0000-0002-5689-3448", "researcher": {"href": "https://publications.scilifelab.se/researcher/e529a40052644d83bdef588a3e4f4e99.json"}}, {"family": "Voors", "given": "Adriaan A", "initials": "AA"}, {"family": "Wang", "given": "Xiaosong", "initials": "X"}, {"family": "Wareham", "given": "Nicholas J", "initials": "NJ"}, {"family": "Waterworth", "given": "Dawn", "initials": "D"}, {"family": "Weeke", "given": "Peter E", "initials": "PE"}, {"family": "Weiss", "given": "Raul", "initials": "R"}, {"family": "Wiggins", "given": "Kerri L", "initials": "KL", "orcid": "0000-0003-2749-1279", "researcher": {"href": "https://publications.scilifelab.se/researcher/a9d1f9cb10ef4038abb10fb6ee289504.json"}}, {"family": "Xing", "given": "Heming", "initials": "H"}, {"family": "Yerges-Armstrong", "given": "Laura M", "initials": "LM"}, {"family": "Yu", "given": "Bing", "initials": "B"}, {"family": "Zannad", "given": "Faiez", "initials": "F"}, {"family": "Zhao", "given": "Jing Hua", "initials": "JH"}, {"family": "Hemingway", "given": "Harry", "initials": "H", "orcid": "0000-0003-2279-0624", "researcher": {"href": "https://publications.scilifelab.se/researcher/0bc6b343a8ab4b4c9ff6380d8d4aa626.json"}}, {"family": "Samani", "given": "Nilesh J", "initials": "NJ"}, {"family": "McMurray", "given": "John J V", "initials": "JJV"}, {"family": "Yang", "given": "Jian", "initials": "J", "orcid": "0000-0003-2001-2474", "researcher": {"href": "https://publications.scilifelab.se/researcher/99b6239b59ad42248e8f18583b40777a.json"}}, {"family": "Visscher", "given": "Peter M", "initials": "PM", "orcid": "0000-0002-2143-8760", "researcher": {"href": "https://publications.scilifelab.se/researcher/dcdb41d4720b436494304f74e33206ae.json"}}, {"family": "Newton-Cheh", "given": "Christopher", "initials": "C"}, {"family": "Malarstig", "given": "Anders", "initials": "A"}, {"family": "Holm", "given": "Hilma", "initials": "H"}, {"family": "Lubitz", "given": "Steven A", "initials": "SA", "orcid": "0000-0002-9599-4866", "researcher": {"href": "https://publications.scilifelab.se/researcher/25bb007311104c92983dbcce80f72260.json"}}, {"family": "Sattar", "given": "Naveed", "initials": "N", "orcid": "0000-0002-1604-2593", "researcher": {"href": "https://publications.scilifelab.se/researcher/80fbc7cdcfc444acb066449f80f87181.json"}}, {"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"}]}