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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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"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": "9519b273b3d747b59c1397b98e5f9e1b", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9519b273b3d747b59c1397b98e5f9e1b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9519b273b3d747b59c1397b98e5f9e1b"}}, "title": "Genetic architecture of subcortical brain structures in 38,851 individuals.", "authors": [{"family": "Satizabal", "given": "Claudia L", "initials": "CL", "orcid": "0000-0002-1115-4430", "researcher": {"href": 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"initials": "M"}, {"family": "Wardlaw", "given": "Joanna M", "initials": "JM", "orcid": "0000-0002-9812-6642", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/31ca22721062484da864f4c0d8c1bb53.json"}}, {"family": "Schmidt", "given": "Reinhold", "initials": "R"}, {"family": "DeCarli", "given": "Charles", "initials": "C"}, {"family": "De Jager", "given": "Philip L", "initials": "PL", "orcid": "0000-0002-8057-2505", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4684858b1fd74dab972859106e0e50a0.json"}}, {"family": "Villringer", "given": "Arno", "initials": "A"}, {"family": "Debette", "given": "St\u00e9phanie", "initials": "S"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V", "orcid": "0000-0001-5696-0084", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c455ccc68df48a0a56ba9f3e1cd07f4.json"}}, {"family": "Medland", "given": "Sarah E", "initials": "SE", "orcid": "0000-0003-1382-380X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cd3ed5adf8e846c894e2a46d89edbec0.json"}}, {"family": "Shulman", "given": "Joshua M", "initials": "JM"}, {"family": "Thompson", "given": "Paul M", "initials": "PM"}, {"family": "Seshadri", "given": "Sudha", "initials": "S"}, {"family": "Ikram", "given": "M Arfan", "initials": "MA", "orcid": "0000-0003-0372-8585", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ef9df12e0e6743f5a97d73c58e75443b.json"}}], "type": "journal article", "published": "2019-11-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "51", "issue": "11", "pages": "1624-1636", "issn-l": "1061-4036"}, "abstract": "Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.", "doi": "10.1038/s41588-019-0511-y", "pmid": "31636452", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1553652"}, {"db": "pmc", "key": "PMC7055269"}, {"db": "pii", "key": "10.1038/s41588-019-0511-y"}], "notes": [], "created": "2026-09-23T06:38:32.789Z", "modified": "2026-09-23T06:38:34.177Z"}, {"entity": "publication", "iuid": "50ec755355ff484bab1051b78dc6d902", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/50ec755355ff484bab1051b78dc6d902.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/50ec755355ff484bab1051b78dc6d902"}}, "title": "PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.", "authors": [{"family": "van Setten", "given": "Jessica", "initials": "J", "orcid": "0000-0002-4934-7510", "researcher": {"href": 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{"family": "Roden", "given": "Dan M", "initials": "DM"}, {"family": "Schnabel", "given": "Renate B", "initials": "RB"}, {"family": "Sinagra", "given": "Gianfranco", "initials": "G", "orcid": "0000-0003-2700-8478", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/69fe49802ac14ff38123d7334a29c461.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Stricker", "given": "Bruno H", "initials": "BH"}, {"family": "van der Harst", "given": "Pim", "initials": "P", "orcid": "0000-0002-2713-686X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/808139762faf4ad8a4eeb39f3a60b61f.json"}}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/513b6983cc9d478ab9d81c2f21579961.json"}}, {"family": "Gharib", "given": "Sina A", "initials": "SA"}, {"family": "de Bakker", "given": "Paul I W", "initials": "PIW"}, {"family": "Isaacs", "given": "Aaron", "initials": "A", "orcid": "0000-0001-5037-4834", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3032ae0243754d59ae39612d49257dfd.json"}}, {"family": "Arking", "given": "Dan E", "initials": "DE"}, {"family": "Sotoodehnia", "given": "Nona", "initials": "N"}], "type": "journal article", "published": "2018-07-25", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "9", "issue": "1", "pages": "2904", "issn-l": "2041-1723"}, "abstract": "Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 European-descent individuals identifies 44 PR interval loci (34 novel). Examination of these loci reveals known and previously not-yet-reported biological processes involved in cardiac atrial electrical activity. Genes in these loci are over-represented in cardiac disease processes including heart block and atrial fibrillation. Variants in over half of the 44 loci were associated with atrial or blood transcript expression levels, or were in high linkage disequilibrium with missense variants. Six additional loci were identified either by meta-analysis of ~105,000 African and European-descent individuals and/or by pleiotropic analyses combining PR interval with heart rate, QRS interval, and atrial fibrillation. These findings implicate developmental pathways, and identify transcription factors, ion-channel genes, and cell-junction/cell-signaling proteins in atrio-ventricular conduction, identifying potential targets for drug development.", "doi": "10.1038/s41467-018-04766-9", "pmid": "30046033", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6060178"}, {"db": "pii", "key": "10.1038/s41467-018-04766-9"}], "notes": [], "created": "2019-01-17T13:55:47.312Z", "modified": "2026-09-23T07:44:50.750Z"}, {"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", 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"0000-0002-4303-7685", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4ce7bbbc0c7c48d699dc9fc3ee251bf3.json"}}, {"family": "Vlachopoulou", "given": "Efthymia", "initials": "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"}, {"entity": "publication", "iuid": "f5ca9acda2394f8ca8555d14dcec24a4", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f5ca9acda2394f8ca8555d14dcec24a4.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f5ca9acda2394f8ca8555d14dcec24a4"}}, "title": "Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.", "authors": [{"family": "Christophersen", "given": "Ingrid E", "initials": "IE", "orcid": "0000-0002-6141-4712", "researcher": 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"Martin", "initials": "M"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Kooperberg", "given": "Charles", "initials": "C"}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}, {"family": "Laurikka", "given": "Jari", "initials": "J"}, {"family": "Conen", "given": "David", "initials": "D"}, {"family": "Rosand", "given": "Jonathan", "initials": "J"}, {"family": "van der Harst", "given": "Pim", "initials": "P"}, {"family": "Lokki", "given": "Marja-Liisa", "initials": "ML"}, {"family": "Kathiresan", "given": "Sekar", "initials": "S"}, {"family": "Pereira", "given": "Alexandre", "initials": "A"}, {"family": "Jukema", "given": "J Wouter", "initials": "JW", "orcid": "0000-0002-3246-8359", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/51be7e89ccfd4bbe93b216028c57a376.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T"}, {"family": "Stricker", "given": "Bruno H", "initials": "BH"}, {"family": "Chung", "given": "Mina K", "initials": "MK"}, {"family": "Felix", "given": "Stephan B", "initials": "SB"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V"}, {"family": "Alonso", "given": "Alvaro", "initials": "A"}, {"family": "Roden", "given": "Dan M", "initials": "DM"}, {"family": "K\u00e4\u00e4b", "given": "Stefan", "initials": "S"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Heckbert", "given": "Susan R", "initials": "SR"}, {"family": "Benjamin", "given": "Emelia J", "initials": "EJ", "orcid": "0000-0003-4076-2336", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/89bc31f5dd38446b9ffb36e68201e2da.json"}}, {"family": "Tanaka", "given": "Toshihiro", "initials": "T", "orcid": "0000-0001-6201-9784", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/76061df47a364337a534ddafa3176e79.json"}}, {"family": "Lunetta", "given": "Kathryn L", "initials": "KL"}, {"family": "Lubitz", "given": "Steven A", "initials": "SA"}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd1830794e884e6e849fd4f7645c9b61.json"}}, {"family": "AFGen Consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2017-06-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "49", "issue": "6", "pages": "946-952", "issn-l": "1061-4036"}, "abstract": "Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the genetic basis of atrial fibrillation, we performed large-scale, trans-ancestry meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 17,931 individuals with atrial fibrillation and 115,142 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,346 cases and 132,086 referents. We identified 12 new genetic loci that exceeded genome-wide significance, implicating genes involved in cardiac electrical and structural remodeling. Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate the identification of new potential targets for drug discovery.", "doi": "10.1038/ng.3843", "pmid": "28416818", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS901319"}, {"db": "pmc", "key": "PMC5585859"}, {"db": "pii", "key": "ng.3843"}], "notes": [], "created": "2018-12-05T09:14:27.701Z", "modified": "2026-09-23T06:35:46.851Z"}]}