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"Eric A", "initials": "EA"}, {"family": "Alonso", "given": "Alvaro", "initials": "A", "orcid": "0000-0002-2225-8323", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6707daa85da845408f0dba0de1447f67.json"}}, {"family": "Arking", "given": "Dan E", "initials": "DE"}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Ehret", "given": "Georg B", "initials": "GB", "orcid": "0000-0002-5730-0675", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1fe0233af4614b8b870be7bb90772368.json"}}, {"family": "Soliman", "given": "Elsayed Z", "initials": "EZ", "orcid": "0000-0001-5632-8150", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e4d53591cd5a46cab26b9e1dd2ce46c2.json"}}, {"family": "Avery", "given": "Christy L", "initials": "CL"}, {"family": "Gogarten", "given": "Stephanie M", "initials": "SM", "orcid": "0000-0002-7231-9745", "researcher": {"href": 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{"href": "https://publications-affiliated.scilifelab.se/researcher/068c4760b3bf44348d36253ae82b631b.json"}}, {"family": "Ramirez", "given": "Julia", "initials": "J", "orcid": "0000-0003-4130-5866", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ec56c82c542d4f8794a318e41fcbbc7c.json"}}, {"family": "Van Duijvenboden", "given": "Stefan", "initials": "S", "orcid": "0000-0001-8897-558X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/53ee07cdad5e4f5d8fe64e6662a2c867.json"}}, {"family": "Arnar", "given": "David O", "initials": "DO"}, {"family": "Gudbjartsson", "given": "Daniel F", "initials": "DF", "orcid": "0000-0002-5222-9857", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/11758dde6b6e4d0cad421e39719b2821.json"}}, {"family": "Holm", "given": "Hilma", "initials": "H"}, {"family": "Sulem", "given": "Patrick", "initials": "P", "orcid": "0000-0001-7123-6123", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/587ca1614f654c4e9a96a84fdab962f4.json"}}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G"}, {"family": "Thorolfsdottir", "given": "Rosa B", "initials": "RB", "orcid": "0000-0001-7475-0398", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/178fc6ff3069437daa0cb6cb00a6838f.json"}}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Benjamin", "given": "Emelia J", "initials": "EJ", "orcid": "0000-0003-4076-2336", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/89bc31f5dd38446b9ffb36e68201e2da.json"}}, {"family": "Tinker", "given": "Andrew", "initials": "A"}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd1830794e884e6e849fd4f7645c9b61.json"}}, {"family": "Jamshidi", "given": "Yalda", "initials": "Y", "orcid": "0000-0003-0151-6482", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/57af8dc1422646fa9158cfc665cc416e.json"}}, {"family": "Lubitz", "given": "Steven A", "initials": "SA", "orcid": "0000-0002-9599-4866", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/60efe6f9ed234eaca23702a92b8aa49f.json"}}, {"family": "Munroe", "given": "Patricia B", "initials": "PB", "orcid": "0000-0002-4176-2947", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3e956b6f17a64fb4b478dbc59950a790.json"}}], "type": "journal article", "published": "2020-05-21", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "11", "issue": "1", "pages": "2542", "issn-l": "2041-1723"}, "abstract": "The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N = 293,051) genome-wide association meta-analysis for the PR interval, discovering 202 loci of which 141 have not previously been reported. Variants at identified loci increase the percentage of heritability explained, from 33.5% to 62.6%. We observe enrichment for cardiac muscle developmental/contractile and cytoskeletal genes, highlighting key regulation processes for atrioventricular conduction. Additionally, 8 loci not previously reported harbor genes underlying inherited arrhythmic syndromes and/or cardiomyopathies suggesting a role for these genes in cardiovascular pathology in the general population. We show that polygenic predisposition to PR interval duration is an endophenotype for cardiovascular disease, including distal conduction disease, AF, and atrioventricular pre-excitation. These findings advance our understanding of the polygenic basis of cardiac conduction, and the genetic relationship between PR interval duration and cardiovascular disease.", "doi": "10.1038/s41467-020-15706-x", "pmid": "32439900", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7242331"}, {"db": "pii", "key": "10.1038/s41467-020-15706-x"}], "notes": [], "created": "2026-09-23T07:38:44.711Z", "modified": "2026-09-23T07:38:45.652Z"}, {"entity": "publication", "iuid": "6a761722823c4bf5b5626f351421f47d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6a761722823c4bf5b5626f351421f47d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6a761722823c4bf5b5626f351421f47d"}}, "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-affiliated.scilifelab.se/researcher/b6ddf9ca75b34006b9c57fec0b87f4de.json"}}, {"family": "Henry", "given": "Albert", "initials": "A", "orcid": "0000-0001-7422-2288", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/918b0c30eef548889a3aba7962112681.json"}}, {"family": "Roselli", "given": "Carolina", "initials": "C", "orcid": "0000-0001-5267-6756", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f57487a2d5bd4b5abac02ffbb46660e3.json"}}, {"family": "Lin", "given": "Honghuang", "initials": "H", "orcid": "0000-0003-3043-3942", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6fcff923f48845b88239000f20875e7c.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-affiliated.scilifelab.se/researcher/193f10917f1944c3b486cee6d8478dd7.json"}}, {"family": "Helgadottir", "given": "Anna", "initials": "A", "orcid": "0000-0002-1806-2467", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/473fc949dcea4553b5e14a9219a7b3b6.json"}}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4ce7bbbc0c7c48d699dc9fc3ee251bf3.json"}}, {"family": "Dehghan", "given": "Abbas", "initials": "A"}, {"family": "Almgren", "given": "Peter", "initials": "P", "orcid": "0000-0002-0473-0241", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/38c129298565453d84f62b9138d0634e.json"}}, 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"given": "Olle", "initials": "O"}, {"family": "Mordi", "given": "Ify R", "initials": "IR", "orcid": "0000-0002-2686-729X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e4334bc69d444ce4b6e1a193e457d343.json"}}, {"family": "Morgan", "given": "Thomas", "initials": "T"}, {"family": "Morris", "given": "Andrew D", "initials": "AD", "orcid": "0000-0002-1766-0473", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e27d11bccff8472d9a0ed8b0fc2cc8ec.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-affiliated.scilifelab.se/researcher/dbf77bd982df46e7ab16bc133842a428.json"}}, {"family": "Nelson", "given": "Christopher P", "initials": "CP", "orcid": "0000-0001-8025-2897", "researcher": {"href": 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"Steven A", "initials": "SA", "orcid": "0000-0002-9599-4866", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/60efe6f9ed234eaca23702a92b8aa49f.json"}}, {"family": "Sattar", "given": "Naveed", "initials": "N", "orcid": "0000-0002-1604-2593", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/62ded46171204537ac5bcae182a71833.json"}}, {"family": "Holmes", "given": "Michael V", "initials": "MV"}, {"family": "Cappola", "given": "Thomas P", "initials": "TP", "orcid": "0000-0002-9630-7204", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0f81b68287f84e87a5158c51e02ee8f9.json"}}, {"family": "Asselbergs", "given": "Folkert W", "initials": "FW", "orcid": "0000-0002-1692-8669", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/181a8a467ca54344b574d248cc98f1d3.json"}}, {"family": "Hingorani", "given": "Aroon D", "initials": "AD"}, {"family": "Kuchenbaecker", "given": "Karoline", "initials": "K", "orcid": "0000-0001-9726-603X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c5164b4dbc504c0a80cd1bd1e321b74d.json"}}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd1830794e884e6e849fd4f7645c9b61.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-affiliated.scilifelab.se/researcher/22de41f77ce541d09a9b04aa59de33f7.json"}}, {"family": "Swerdlow", "given": "Daniel I", "initials": "DI"}, {"family": "Lumbers", "given": "R Thomas", "initials": "RT", "orcid": "0000-0002-9077-4741", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f955aed60dc6404eb75f0a5ef3ddba33.json"}}], "type": "journal article", "published": "2020-01-09", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "11", "issue": "1", "pages": "163", "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": [], "xrefs": [{"db": "pmc", "key": "PMC6952380"}, {"db": "pii", "key": "10.1038/s41467-019-13690-5"}], "notes": [], "created": "2026-09-23T06:29:24.308Z", "modified": "2026-09-23T06:29:28.162Z"}, {"entity": "publication", "iuid": "6d611371a9e24369b0541f194047301d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6d611371a9e24369b0541f194047301d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6d611371a9e24369b0541f194047301d"}}, "title": "Multi-ethnic genome-wide association study for atrial fibrillation.", "authors": [{"family": "Roselli", "given": "Carolina", "initials": "C", "orcid": "0000-0001-5267-6756", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f57487a2d5bd4b5abac02ffbb46660e3.json"}}, 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"E"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U"}, {"family": "Wang", "given": "Biqi", "initials": "B"}, {"family": "Weeke", "given": "Peter E", "initials": "PE"}, {"family": "Weijs", "given": "Bob", "initials": "B", "orcid": "0000-0003-3202-4931", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0cc03d79573e433497debd2c81eb26af.json"}}, {"family": "Weiss", "given": "Raul", "initials": "R"}, {"family": "Weiss", "given": "Stefan", "initials": "S", "orcid": "0000-0002-3553-4315", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ebf58f688caa49ab9e0a3e56349b1031.json"}}, {"family": "Wells", "given": "Quinn S", "initials": "QS"}, {"family": "Wiggins", "given": "Kerri L", "initials": "KL", "orcid": "0000-0003-2749-1279", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81a494bbde4e455295116301551c8cb8.json"}}, {"family": "Wong", "given": "Jorge A", "initials": "JA"}, {"family": "Woo", "given": "Daniel", "initials": "D"}, {"family": "Worrall", "given": "Bradford B", "initials": "BB"}, {"family": "Yang", "given": "Pil-Sung", "initials": "PS"}, {"family": "Yao", "given": "Jie", "initials": "J"}, {"family": "Yoneda", "given": "Zachary T", "initials": "ZT"}, {"family": "Zeller", "given": "Tanja", "initials": "T"}, {"family": "Zeng", "given": "Lingyao", "initials": "L"}, {"family": "Lubitz", "given": "Steven A", "initials": "SA", "orcid": "0000-0002-9599-4866", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/60efe6f9ed234eaca23702a92b8aa49f.json"}}, {"family": "Lunetta", "given": "Kathryn L", "initials": "KL"}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd1830794e884e6e849fd4f7645c9b61.json"}}], "type": "journal article", "published": "2018-06-11", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "9", "pages": "1225-1233", "issn-l": "1061-4036"}, "abstract": "Atrial fibrillation (AF) affects more than 33 million individuals worldwide1 and has a complex heritability2. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF. We also performed transcriptome-wide analyses that identified 57 AF-associated genes, 42 of which overlap with GWAS loci. The identified loci implicate genes enriched within cardiac developmental, electrophysiological, contractile and structural pathways. These results extend our understanding of the biological pathways underlying AF and may facilitate the development of therapeutics for AF.", "doi": "10.1038/s41588-018-0133-9", "pmid": "29892015", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS986675"}, {"db": "pmc", "key": "PMC6136836"}, {"db": "pii", "key": "10.1038/s41588-018-0133-9"}], "notes": [], "created": "2019-01-17T14:00:58.837Z", "modified": "2026-09-23T06:29:56.965Z"}]}