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"https://publications.scilifelab.se/researcher/1394a447fd314f05878d67dbc170f1ec.json"}}, {"family": "Kelly", "given": "Tanika N", "initials": "TN"}, {"family": "Kritchevsky", "given": "Stephen B", "initials": "SB"}, {"family": "Levy", "given": "Daniel", "initials": "D"}, {"family": "Palmas", "given": "Walter R", "initials": "WR"}, {"family": "Pereira", "given": "A C", "initials": "AC"}, {"family": "Province", "given": "Michael M", "initials": "MM"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Ridker", "given": "Paul M", "initials": "PM"}, {"family": "Rotimi", "given": "Charles N", "initials": "CN"}, {"family": "Tai", "given": "E Shyong", "initials": "ES"}, {"family": "van Dam", "given": "Rob M", "initials": "RM"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Wong", "given": "Tien Yin", "initials": "TY"}, {"family": "Rice", "given": "Kenneth", "initials": "K"}, {"family": "Gauderman", "given": "W James", "initials": "WJ"}, {"family": "Morrison", "given": "Alanna C", "initials": "AC"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Kardia", "given": "Sharon L R", "initials": "SLR"}, {"family": "Caulfield", "given": "Mark J", "initials": "MJ", "orcid": "0000-0001-9295-3594", "researcher": {"href": "https://publications.scilifelab.se/researcher/cc848c0cb6904712ad6b48c2058770f5.json"}}, {"family": "Elliott", "given": "Paul", "initials": "P"}, {"family": "Munroe", "given": "Patricia B", "initials": "PB"}, {"family": "Franks", "given": "Paul W", "initials": "PW"}, {"family": "Rao", "given": "Dabeeru C", "initials": "DC"}, {"family": "Fornage", "given": "Myriam", "initials": "M"}], "type": "journal article", "published": "2021-06-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184", "volume": "26", "issue": "6", "pages": "2111-2125"}, "abstract": "Educational attainment is widely used as a surrogate for socioeconomic status (SES). Low SES is a risk factor for hypertension and high blood pressure (BP). To identify novel BP loci, we performed multi-ancestry meta-analyses accounting for gene-educational attainment interactions using two variables, \"Some College\" (yes/no) and \"Graduated College\" (yes/no). Interactions were evaluated using both a 1 degree of freedom (DF) interaction term and a 2DF joint test of genetic and interaction effects. Analyses were performed for systolic BP, diastolic BP, mean arterial pressure, and pulse pressure. We pursued genome-wide interrogation in Stage 1 studies (N = 117 438) and follow-up on promising variants in Stage 2 studies (N = 293 787) in five ancestry groups. Through combined meta-analyses of Stages 1 and 2, we identified 84 known and 18 novel BP loci at genome-wide significance level (P < 5 \u00d7 10-8). Two novel loci were identified based on the 1DF test of interaction with educational attainment, while the remaining 16 loci were identified through the 2DF joint test of genetic and interaction effects. Ten novel loci were identified in individuals of African ancestry. Several novel loci show strong biological plausibility since they involve physiologic systems implicated in BP regulation. They include genes involved in the central nervous system-adrenal signaling axis (ZDHHC17, CADPS, PIK3C2G), vascular structure and function (GNB3, CDON), and renal function (HAS2 and HAS2-AS1, SLIT3). Collectively, these findings suggest a role of educational attainment or SES in further dissection of the genetic architecture of BP.", "doi": "10.1038/s41380-020-0719-3", "pmid": "32372009", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-020-0719-3"}, {"db": "pmc", "key": "PMC7641978"}, {"db": "mid", "key": "NIHMS1579455"}], "notes": [], "created": "2021-01-07T17:01:46.378Z", "modified": "2021-12-07T13:40:35.407Z"}, {"entity": "publication", "iuid": "d98c58bf1e6e4de9b468b52b6592fa41", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d98c58bf1e6e4de9b468b52b6592fa41.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d98c58bf1e6e4de9b468b52b6592fa41"}}, "title": "Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.", "authors": [{"family": "Ntalla", "given": "Ioanna", "initials": "I"}, {"family": "Weng", "given": "Lu-Chen", "initials": "LC", "orcid": "0000-0003-1475-4930", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e52c9c21794412bbb3750fda1fecfe0.json"}}, {"family": "Cartwright", "given": "James H", "initials": "JH"}, {"family": "Hall", "given": "Amelia Weber", "initials": "AW", "orcid": "0000-0002-7915-0313", "researcher": {"href": "https://publications.scilifelab.se/researcher/7a151b393a6c434585d4834fd32de6a4.json"}}, {"family": "Sveinbjornsson", "given": "Gardar", "initials": "G"}, {"family": "Tucker", "given": "Nathan R", "initials": "NR", "orcid": "0000-0002-5071-4218", "researcher": {"href": "https://publications.scilifelab.se/researcher/f89b1366ff014dc6a9cc5fe4bd37becf.json"}}, {"family": "Choi", "given": "Seung Hoan", "initials": "SH"}, {"family": "Chaffin", "given": "Mark D", "initials": "MD", "orcid": "0000-0002-1234-5562", "researcher": {"href": "https://publications.scilifelab.se/researcher/c73477de5ca0468ab051fd6eab7bad81.json"}}, {"family": "Roselli", "given": "Carolina", "initials": "C", "orcid": "0000-0001-5267-6756", "researcher": {"href": "https://publications.scilifelab.se/researcher/1dd28aad250f42719d505c21ed76013b.json"}}, {"family": "Barnes", "given": "Michael R", "initials": "MR", "orcid": "0000-0001-9097-7381", "researcher": {"href": "https://publications.scilifelab.se/researcher/bffbcdd5aad340b98d7da297ffc21e6b.json"}}, {"family": "Mifsud", "given": "Borbala", "initials": "B", "orcid": "0000-0003-3429-3094", "researcher": {"href": "https://publications.scilifelab.se/researcher/0105dc446d594b0bb3be38b8eb94a16b.json"}}, {"family": "Warren", "given": "Helen R", "initials": "HR"}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Marten", "given": 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"Charles", "initials": "C"}, {"family": "Peters", "given": "Ulrike", "initials": "U", "orcid": "0000-0001-5666-9318", "researcher": {"href": "https://publications.scilifelab.se/researcher/60e10f10b57b48bfa52f3ee2ee4e4745.json"}}, {"family": "Reiner", "given": "Alexander P", "initials": "AP"}, {"family": "Whitsel", "given": "Eric A", "initials": "EA"}, {"family": "Alonso", "given": "Alvaro", "initials": "A", "orcid": "0000-0002-2225-8323", "researcher": {"href": "https://publications.scilifelab.se/researcher/5213f2852c3e4ebb9a2c77883f46a04d.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.scilifelab.se/researcher/b43e94a3abca4c0cbcc921f3efb828bc.json"}}, {"family": "Soliman", "given": "Elsayed Z", "initials": "EZ", "orcid": "0000-0001-5632-8150", "researcher": {"href": 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"https://publications.scilifelab.se/researcher/9d897d8376084cc8905fa9177803ecba.json"}}, {"family": "Yldau van der Ende", "given": "M", "initials": "M"}, {"family": "Lambiase", "given": "Pier D", "initials": "PD"}, {"family": "Orini", "given": "Michele", "initials": "M", "orcid": "0000-0001-5773-0344", "researcher": {"href": "https://publications.scilifelab.se/researcher/ad2b6285769e43d59eaa61068cd9307d.json"}}, {"family": "Ramirez", "given": "Julia", "initials": "J", "orcid": "0000-0003-4130-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/ff795d161ab5418ebbb32c64fc9628cf.json"}}, {"family": "Van Duijvenboden", "given": "Stefan", "initials": "S", "orcid": "0000-0001-8897-558X", "researcher": {"href": "https://publications.scilifelab.se/researcher/bedcb22e237147019c8a97c32e164456.json"}}, {"family": "Arnar", "given": "David O", "initials": "DO"}, {"family": "Gudbjartsson", "given": "Daniel F", "initials": "DF", "orcid": "0000-0002-5222-9857", "researcher": {"href": "https://publications.scilifelab.se/researcher/e41ffdc303534408aade6e4a071e4801.json"}}, {"family": "Holm", "given": "Hilma", "initials": "H"}, {"family": "Sulem", "given": "Patrick", "initials": "P", "orcid": "0000-0001-7123-6123", "researcher": {"href": "https://publications.scilifelab.se/researcher/a228963aa2c148ee82e526d07e298364.json"}}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G"}, {"family": "Thorolfsdottir", "given": "Rosa B", "initials": "RB", "orcid": "0000-0001-7475-0398", "researcher": {"href": "https://publications.scilifelab.se/researcher/e803af5742504636a2d16ae252f94af4.json"}}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Benjamin", "given": "Emelia J", "initials": "EJ", "orcid": "0000-0003-4076-2336", "researcher": {"href": "https://publications.scilifelab.se/researcher/31c69bdf118d4b36ad65a6c4f780bab2.json"}}, {"family": "Tinker", "given": "Andrew", "initials": "A"}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications.scilifelab.se/researcher/679465193fba4887a68e2aec34ccfd8e.json"}}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd513dc49e0945bc8298f72d1244648d.json"}}, {"family": "Jamshidi", "given": "Yalda", "initials": "Y", "orcid": "0000-0003-0151-6482", "researcher": {"href": "https://publications.scilifelab.se/researcher/66a90ee88cbf4e9b9e782548fe4991c0.json"}}, {"family": "Lubitz", "given": "Steven A", "initials": "SA", "orcid": "0000-0002-9599-4866", "researcher": {"href": "https://publications.scilifelab.se/researcher/25bb007311104c92983dbcce80f72260.json"}}, {"family": "Munroe", "given": "Patricia B", "initials": "PB", "orcid": "0000-0002-4176-2947", "researcher": {"href": "https://publications.scilifelab.se/researcher/657544a7f921459f926aae5cd0e2065c.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": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-020-15706-x"}, {"db": "pmc", "key": "PMC7242331"}], "notes": [], "created": "2020-05-27T13:29:26.954Z", "modified": "2021-11-10T12:50:53.503Z"}, {"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": 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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"}]}