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"https://publications.scilifelab.se/researcher/679465193fba4887a68e2aec34ccfd8e.json"}}, {"family": "B\u00f6ger", "given": "Carsten A", "initials": "CA"}, {"family": "Hung", "given": "Adriana M", "initials": "AM"}, {"family": "Kronenberg", "given": "Florian", "initials": "F", "orcid": "0000-0003-2229-1120", "researcher": {"href": "https://publications.scilifelab.se/researcher/ebc59079554842ecb3512ef90249a2f2.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4cb85a14da4db6bc932a8bc4148efb.json"}}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a6a570bbec647b188c4a7a5da03caac.json"}}, {"family": "Heid", "given": "Iris M", "initials": "IM", "orcid": "0000-0002-4122-5308", "researcher": {"href": "https://publications.scilifelab.se/researcher/34990140a9604dd7b61807dafc8fabc6.json"}}], "type": "journal article", "published": "2022-06-13", "journal": {"title": "Commun Biol", "issn": "2399-3642", "volume": "5", "issue": "1", "pages": "580", "issn-l": "2399-3642"}, "abstract": "Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (nDM = 178,691, nnoDM = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM.", "doi": "10.1038/s42003-022-03448-z", "pmid": "35697829", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "NGI SNP genotyping": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s42003-022-03448-z"}, {"db": "pmc", "key": "PMC9192715"}], "notes": [], "created": "2022-06-14T13:16:22.813Z", "modified": "2022-11-21T15:40:40.440Z"}, {"entity": "publication", "iuid": "5bda2a11b7db434eb59bf15b95416b79", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5bda2a11b7db434eb59bf15b95416b79.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5bda2a11b7db434eb59bf15b95416b79"}}, "title": "A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease.", "authors": [{"family": "Wightman", "given": "Douglas P", "initials": "DP", "orcid": "0000-0003-3377-4806", "researcher": {"href": "https://publications.scilifelab.se/researcher/13ef837e483c421ebf9e9a20c9c03704.json"}}, {"family": "Jansen", "given": "Iris E", "initials": "IE"}, {"family": "Savage", "given": "Jeanne E", "initials": "JE", "orcid": "0000-0002-2034-8341", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8768341f7f44f449c2f70a493cc556d.json"}}, {"family": "Shadrin", "given": "Alexey A", "initials": "AA", "orcid": "0000-0002-7467-250X", "researcher": {"href": "https://publications.scilifelab.se/researcher/3fc77cdfdcc7428f9efa8dfb3d74f6b8.json"}}, {"family": "Bahrami", "given": "Shahram", "initials": "S"}, {"family": "Holland", "given": "Dominic", "initials": "D"}, {"family": "Rongve", "given": "Arvid", "initials": "A", "orcid": "0000-0002-0476-4134", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9705ecf2a9c4153a56409c17236e71a.json"}}, {"family": "B\u00f8rte", "given": "Sigrid", "initials": "S", "orcid": "0000-0001-9540-3256", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8ad5cab444b45e58e850f8e17ce8c57.json"}}, {"family": "Winsvold", "given": "Bendik S", "initials": "BS", "orcid": "0000-0003-4171-8919", "researcher": {"href": "https://publications.scilifelab.se/researcher/03c8e10afc604295a98f2a057c4179b5.json"}}, {"family": "Drange", "given": "Ole Kristian", "initials": "OK"}, {"family": "Martinsen", "given": "Amy E", "initials": "AE"}, {"family": "Skogholt", "given": "Anne Heidi", "initials": "AH"}, {"family": "Willer", "given": "Cristen", "initials": "C", "orcid": "0000-0001-5645-4966", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3a8e1d33146452b87e7e21eb5339f80.json"}}, {"family": "Br\u00e5then", "given": "Geir", "initials": "G", "orcid": "0000-0003-3224-7983", "researcher": {"href": "https://publications.scilifelab.se/researcher/52e7ea4ab30548829139064396d7c044.json"}}, {"family": "Bosnes", "given": "Ingunn", "initials": "I"}, {"family": "Nielsen", "given": "Jonas Bille", "initials": "JB"}, {"family": "Fritsche", "given": "Lars G", "initials": "LG", "orcid": "0000-0002-2110-1690", "researcher": {"href": "https://publications.scilifelab.se/researcher/00bea312a34a4b8f8436d00fcf799ac3.json"}}, {"family": "Thomas", "given": "Laurent F", "initials": "LF", "orcid": "0000-0003-0548-2486", "researcher": {"href": "https://publications.scilifelab.se/researcher/75b15803ea4445c4b22eaee02e3f131b.json"}}, {"family": "Pedersen", "given": "Linda M", "initials": "LM", "orcid": "0000-0002-8448-983X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4533b5ba55a4b22ba3b9cf6229f4dd9.json"}}, {"family": "Gabrielsen", "given": "Maiken E", "initials": "ME"}, {"family": "Johnsen", "given": "Marianne Bakke", "initials": "MB"}, {"family": "Meisingset", "given": "Tore Wergeland", "initials": "TW"}, {"family": "Zhou", "given": "Wei", "initials": "W", "orcid": "0000-0001-7719-0859", "researcher": {"href": "https://publications.scilifelab.se/researcher/78c70f5da0ef414680693f1c41dcf99a.json"}}, {"family": "Proitsi", "given": "Petroula", "initials": "P", "orcid": "0000-0002-2553-6974", "researcher": {"href": "https://publications.scilifelab.se/researcher/724f31ac8bc746e7801728be49ab9cc2.json"}}, {"family": "Hodges", "given": "Angela", "initials": "A", "orcid": "0000-0002-5565-6678", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d7d11a2c2dd433bbb7661083cba78b4.json"}}, {"family": "Dobson", "given": "Richard", "initials": "R", "orcid": "0000-0003-4224-9245", "researcher": {"href": "https://publications.scilifelab.se/researcher/098ba38a51a64ba89362ed2a2e51455f.json"}}, {"family": "Velayudhan", "given": "Latha", "initials": "L", "orcid": "0000-0002-7712-930X", "researcher": {"href": "https://publications.scilifelab.se/researcher/2094a9d79b25424692fd809268beb49c.json"}}, {"family": "Heilbron", "given": "Karl", "initials": "K"}, {"family": "Auton", "given": "Adam", "initials": "A"}, {"family": "23andMe Research Team", "given": "", "initials": ""}, {"family": "Sealock", "given": "Julia M", "initials": "JM", "orcid": "0000-0002-9346-3498", "researcher": {"href": "https://publications.scilifelab.se/researcher/9219887fe38b47d5975fd70fdeb83653.json"}}, {"family": "Davis", "given": "Lea K", "initials": "LK", "orcid": "0000-0001-5143-2282", "researcher": {"href": "https://publications.scilifelab.se/researcher/60132a034c8d412dbbb7fedbc9743d81.json"}}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Reynolds", "given": "Chandra A", "initials": "CA", "orcid": "0000-0001-6502-7173", "researcher": {"href": "https://publications.scilifelab.se/researcher/6b7cd2b82d81463c8dd3f13c4d75ab6f.json"}}, {"family": "Karlsson", "given": "Ida K", "initials": "IK"}, {"family": "Magnusson", "given": "Sigurdur", "initials": "S", "orcid": "0000-0001-6669-3071", "researcher": {"href": "https://publications.scilifelab.se/researcher/7fe6813ffc624ef7912596694c9a5475.json"}}, {"family": "Stefansson", "given": "Hreinn", "initials": "H", "orcid": "0000-0002-9331-6666", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7063dc7b22a493c86eb0998366d8c1b.json"}}, {"family": "Thordardottir", "given": "Steinunn", "initials": "S"}, {"family": "Jonsson", "given": "Palmi V", "initials": "PV"}, {"family": "Snaedal", "given": "Jon", "initials": "J"}, {"family": "Zettergren", "given": "Anna", "initials": "A", "orcid": "0000-0002-7182-8417", "researcher": {"href": "https://publications.scilifelab.se/researcher/238188e1165e4de88918f024e3b1289e.json"}}, {"family": "Skoog", "given": "Ingmar", "initials": "I"}, {"family": "Kern", "given": "Silke", "initials": "S"}, {"family": "Waern", "given": "Margda", "initials": "M"}, {"family": "Zetterberg", "given": "Henrik", "initials": "H"}, {"family": "Blennow", "given": "Kaj", "initials": "K"}, {"family": "Stordal", "given": "Eystein", "initials": "E", "orcid": "0000-0002-2443-7923", "researcher": {"href": "https://publications.scilifelab.se/researcher/6eacc414991448c38cee92ac328eb4d3.json"}}, {"family": "Hveem", "given": "Kristian", "initials": "K"}, {"family": "Zwart", "given": "John-Anker", "initials": "JA", "orcid": "0000-0001-5721-0154", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6ba64e625064349b7405b23439e1bfe.json"}}, {"family": "Athanasiu", "given": "Lavinia", "initials": "L"}, {"family": "Selnes", "given": "Per", "initials": "P"}, {"family": "Saltvedt", "given": "Ingvild", "initials": "I", "orcid": "0000-0002-7897-9808", "researcher": {"href": "https://publications.scilifelab.se/researcher/036815a19f424c5eacb62d47bd93f5f7.json"}}, {"family": "Sando", "given": "Sigrid B", "initials": "SB"}, {"family": "Ulstein", "given": "Ingun", "initials": "I"}, {"family": "Djurovic", "given": "Srdjan", "initials": "S", "orcid": "0000-0002-8140-8061", "researcher": {"href": "https://publications.scilifelab.se/researcher/906538321c8e4f38b6bb4a7b0bc18fa3.json"}}, {"family": "Fladby", "given": "Tormod", "initials": "T", "orcid": "0000-0002-9984-9797", "researcher": {"href": "https://publications.scilifelab.se/researcher/9a3bb37886ef42939d74038635209539.json"}}, {"family": "Aarsland", "given": "Dag", "initials": "D", "orcid": "0000-0001-6314-216X", "researcher": {"href": "https://publications.scilifelab.se/researcher/121af6702db54d68b1ca94e8c22a8688.json"}}, {"family": "Selb\u00e6k", "given": "Geir", "initials": "G", "orcid": "0000-0001-6511-8219", "researcher": {"href": "https://publications.scilifelab.se/researcher/c43c9a49c1ba453fbb1fb59f2da44662.json"}}, {"family": "Ripke", "given": "Stephan", "initials": "S", "orcid": "0000-0003-3622-835X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e2b56c2c5f534130b7fdc2b14d6b7f15.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications.scilifelab.se/researcher/679465193fba4887a68e2aec34ccfd8e.json"}}, {"family": "Andreassen", "given": "Ole A", "initials": "OA", "orcid": "0000-0002-4461-3568", "researcher": {"href": "https://publications.scilifelab.se/researcher/56f384e8e2fd4a7383c7b26e88a828b2.json"}}, {"family": "Posthuma", "given": "Danielle", "initials": "D", "orcid": "0000-0001-7582-2365", "researcher": {"href": "https://publications.scilifelab.se/researcher/406e98180d174e8ca087f50074c025c9.json"}}], "type": "journal article", "published": "2021-09-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "53", "issue": "9", "pages": "1276-1282", "issn-l": "1061-4036"}, "abstract": "Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts for 50-70% of dementia cases. Currently, only a fraction of the genetic variants underlying Alzheimer's disease have been identified. Here we show that increased sample sizes allowed identification of seven previously unidentified genetic loci contributing to Alzheimer's disease. This study highlights microglia, immune cells and protein catabolism as relevant to late-onset Alzheimer's disease, while identifying and prioritizing previously unidentified genes of potential interest. We anticipate that these results can be included in larger meta-analyses of Alzheimer's disease to identify further genetic variants that contribute to Alzheimer's pathology.", "doi": "10.1038/s41588-021-00921-z", "pmid": "34493870", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41588-021-00921-z"}], "notes": [], "created": "2021-12-22T19:40:03.174Z", "modified": "2023-06-20T15:55:43.752Z"}, {"entity": "publication", "iuid": "48f74c2afc0b4af8befb22016e4d7b0c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/48f74c2afc0b4af8befb22016e4d7b0c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/48f74c2afc0b4af8befb22016e4d7b0c"}}, "title": "Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.", "authors": [{"family": "Lagou", "given": "Vasiliki", "initials": "V"}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R"}, {"family": "Hottenga", "given": "Jouke- Jan", "initials": "JJ", "orcid": "0000-0002-5668-2368", "researcher": {"href": "https://publications.scilifelab.se/researcher/75553b594b1f4255833de730f7f7d170.json"}}, {"family": "Grallert", "given": "Harald", "initials": "H"}, {"family": "Perry", "given": "John R B", "initials": "JRB"}, {"family": "Bouatia-Naji", "given": "Nabila", "initials": "N", "orcid": "0000-0001-5424-2134", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4f7af2cb2b7464abddf05692a292fc3.json"}}, {"family": "Marullo", "given": "Letizia", "initials": "L"}, {"family": "Rybin", "given": "Denis", "initials": "D"}, {"family": "Jansen", "given": "Rick", "initials": "R", "orcid": "0000-0002-3333-6737", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcd392c9b9784ebe8c8730e05463377a.json"}}, {"family": "Min", "given": "Josine L", "initials": "JL", "orcid": "0000-0003-4456-9824", "researcher": {"href": "https://publications.scilifelab.se/researcher/5896cbc0cb8d427a954b194839adda52.json"}}, {"family": "Dimas", "given": "Antigone S", "initials": "AS"}, {"family": "Ulrich", "given": "Anna", "initials": "A"}, {"family": "Zudina", "given": "Liudmila", "initials": "L"}, {"family": "G\u00e5din", "given": "Jesper R", "initials": "JR"}, {"family": "Jiang", "given": "Longda", "initials": "L"}, {"family": "Faggian", "given": "Alessia", "initials": "A", "orcid": "0000-0002-3799-9722", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4f320f96474406c82fef88f1f78dd23.json"}}, {"family": "Bonnefond", "given": "Am\u00e9lie", "initials": "A", "orcid": "0000-0001-9976-3005", "researcher": {"href": "https://publications.scilifelab.se/researcher/ea1984308c1544ba969d4df73971de69.json"}}, {"family": "Fadista", "given": "Joao", "initials": "J"}, {"family": "Stathopoulou", "given": "Maria G", "initials": "MG"}, {"family": "Isaacs", "given": "Aaron", "initials": "A", "orcid": "0000-0001-5037-4834", "researcher": {"href": "https://publications.scilifelab.se/researcher/38ebe49e62404f48bcb979d9671883e7.json"}}, {"family": "Willems", "given": "Sara M", "initials": "SM", "orcid": "0000-0002-6803-3007", "researcher": {"href": "https://publications.scilifelab.se/researcher/307c8a9b3ab54ab586c7b000c110e76b.json"}}, {"family": "Navarro", "given": "Pau", "initials": "P", "orcid": "0000-0001-5576-8584", "researcher": {"href": "https://publications.scilifelab.se/researcher/9420946aedec4a7b8925cc05c0a9abeb.json"}}, {"family": "Tanaka", "given": "Toshiko", "initials": "T"}, {"family": "Jackson", "given": "Anne U", "initials": "AU", "orcid": "0000-0002-9672-2547", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8230afabb0b4dcda8dc58ead349aea0.json"}}, {"family": "Montasser", "given": "May E", "initials": "ME"}, {"family": "O'Connell", "given": "Jeff R", "initials": "JR"}, {"family": "Bielak", "given": "Lawrence F", "initials": "LF", "orcid": 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"initials": "G"}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications.scilifelab.se/researcher/7306319d42a640a483b937de588a17a4.json"}}, {"family": "Goel", "given": "Anuj", "initials": "A", "orcid": "0000-0003-2307-4021", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f16d9d2e2164938a12b027326c21316.json"}}, {"family": "Ford", "given": "Ian", "initials": "I"}, {"family": "Johnson", "given": "Paul C D", "initials": "PCD", "orcid": "0000-0001-6663-7520", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d7b476aaf134a44862c87b7a6e6ee27.json"}}, {"family": "Johnson", "given": "Toby", "initials": "T"}, {"family": "Kapur", "given": "Karen", "initials": "K"}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G"}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": 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"researcher": {"href": "https://publications.scilifelab.se/researcher/c9edfafda7364890866115f5343a9583.json"}}, {"family": "Barroso", "given": "In\u00eas", "initials": "I", "orcid": "0000-0001-5800-4520", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2dc6be9aa194bdc9a161e551d5e6747.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Prokopenko", "given": "Inga", "initials": "I"}, {"family": "Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)", "given": "", "initials": ""}], "type": "journal article", "published": "2021-01-05", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "12", "issue": "1", "pages": "24", "issn-l": "2041-1723"}, "abstract": "Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.", "doi": "10.1038/s41467-020-19366-9", "pmid": "33402679", "labels": {"NGI Stockholm (Genomics Applications)": "Service", "National Genomics Infrastructure": null, "NGI Stockholm (Genomics Production)": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-020-19366-9"}, {"db": "pmc", "key": "PMC7785747"}], "notes": [], "created": "2021-01-08T16:30:26.062Z", "modified": "2021-11-10T12:27:48.827Z"}, {"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": "Jonathan", "initials": "J"}, {"family": "Cranley", "given": "James J", "initials": "JJ"}, {"family": "Concas", "given": "Maria Pina", "initials": "MP", "orcid": "0000-0003-3598-2537", "researcher": {"href": "https://publications.scilifelab.se/researcher/74f63075f4ce43cc921c658fb353bd25.json"}}, {"family": "Gasparini", "given": "Paolo", "initials": "P"}, {"family": "Boutin", "given": "Thibaud", "initials": "T", "orcid": "0000-0003-4754-1675", "researcher": {"href": "https://publications.scilifelab.se/researcher/d573e6802c4c4702839902830dbbea71.json"}}, {"family": "Kolcic", "given": "Ivana", "initials": "I", "orcid": "0000-0001-7918-6052", "researcher": {"href": "https://publications.scilifelab.se/researcher/891cf7a5a8ae496d99e92e4ef7de7b65.json"}}, {"family": "Polasek", "given": "Ozren", "initials": "O"}, {"family": "Rudan", "given": "Igor", "initials": "I", "orcid": "0000-0001-6993-6884", "researcher": {"href": "https://publications.scilifelab.se/researcher/d50e1ca836e841f8a7a748ae93b59d75.json"}}, {"family": "Araujo", "given": "Nathalia M", "initials": "NM"}, {"family": "Lima-Costa", "given": "Maria Fernanda", "initials": "MF"}, {"family": "Ribeiro", "given": "Antonio Luiz P", "initials": "ALP"}, {"family": "Souza", "given": "Renan P", "initials": "RP", "orcid": "0000-0002-9479-4432", "researcher": {"href": "https://publications.scilifelab.se/researcher/5063e735c93847978a9eba44224a3495.json"}}, {"family": "Tarazona-Santos", "given": "Eduardo", "initials": "E"}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V", "orcid": "0000-0003-3423-2021", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c95879213664e00b66aeee2e8ece975.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E", "orcid": "0000-0003-2256-6972", "researcher": {"href": "https://publications.scilifelab.se/researcher/689bc741ea6547d18de7080c84d0193e.json"}}, {"family": "Mahajan", "given": "Anubha", "initials": "A", "orcid": "0000-0001-5585-3420", "researcher": {"href": "https://publications.scilifelab.se/researcher/194be8a851164e2ea4d004dd2febc9be.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP", "orcid": "0000-0002-6805-6014", "researcher": {"href": "https://publications.scilifelab.se/researcher/991fd686a4a040a1a197c1f32d5b731b.json"}}, {"family": "Del Greco M", "given": "Fabiola", "initials": "F"}, {"family": "Foco", "given": "Luisa", "initials": "L"}, {"family": "G\u00f6gele", "given": "Martin", "initials": "M"}, {"family": "Hicks", "given": "Andrew A", "initials": "AA", "orcid": "0000-0001-6320-0411", "researcher": {"href": "https://publications.scilifelab.se/researcher/a679db3cfdb6408b8f1a009534d7b902.json"}}, {"family": "Cook", "given": "James P", "initials": "JP"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Sundstr\u00f6m", "given": "Johan", "initials": "J", "orcid": "0000-0003-2247-8454", "researcher": {"href": "https://publications.scilifelab.se/researcher/91a40d3c138d43f2b0d38f66be4b71c7.json"}}, {"family": "Nelson", "given": "Christopher P", "initials": "CP", "orcid": "0000-0001-8025-2897", "researcher": {"href": "https://publications.scilifelab.se/researcher/9cac4df8cd7241558b51f2abdc1c28eb.json"}}, {"family": "Riaz", "given": "Muhammad B", "initials": "MB", "orcid": "0000-0002-5512-1745", "researcher": {"href": "https://publications.scilifelab.se/researcher/d784394e8087412a9e9435b8c57b9f18.json"}}, {"family": "Samani", "given": "Nilesh J", "initials": "NJ"}, {"family": "Sinagra", "given": "Gianfranco", "initials": "G", "orcid": "0000-0003-2700-8478", "researcher": {"href": "https://publications.scilifelab.se/researcher/d55dd21a41f34ad69eb4f97c00719aec.json"}}, {"family": "Ulivi", "given": "Sheila", "initials": "S"}, {"family": "K\u00e4h\u00f6nen", "given": "Mika", "initials": "M"}, {"family": "Mishra", "given": "Pashupati P", "initials": "PP", "orcid": "0000-0001-5177-3431", "researcher": {"href": "https://publications.scilifelab.se/researcher/f59bb4e2d43449b68f9da32607d3a87c.json"}}, {"family": "Mononen", "given": "Nina", "initials": "N"}, {"family": "Nikus", "given": "Kjell", "initials": "K"}, {"family": "Caulfield", "given": "Mark J", "initials": "MJ", "orcid": "0000-0001-9295-3594", "researcher": {"href": "https://publications.scilifelab.se/researcher/cc848c0cb6904712ad6b48c2058770f5.json"}}, {"family": "Dominiczak", "given": "Anna", "initials": "A", "orcid": "0000-0003-4913-3608", "researcher": {"href": "https://publications.scilifelab.se/researcher/be475c0e718a417190edc405046ddbb5.json"}}, {"family": "Padmanabhan", "given": "Sandosh", "initials": "S"}, {"family": "Montasser", "given": "May E", "initials": "ME"}, {"family": "O'Connell", "given": "Jeff R", "initials": "JR"}, {"family": "Ryan", "given": "Kathleen", "initials": "K"}, {"family": "Shuldiner", "given": "Alan R", "initials": "AR"}, {"family": "Aeschbacher", "given": "Stefanie", "initials": "S"}, {"family": "Conen", "given": "David", "initials": "D"}, {"family": "Risch", "given": "Lorenz", "initials": "L", "orcid": "0000-0003-2692-6699", "researcher": {"href": "https://publications.scilifelab.se/researcher/0be4868c5b394efeb187f5dd51b49b20.json"}}, {"family": "Th\u00e9riault", "given": "S\u00e9bastien", "initials": "S"}, {"family": "Hutri-K\u00e4h\u00f6nen", "given": "Nina", "initials": "N"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T"}, {"family": "Lyytik\u00e4inen", "given": "Leo-Pekka", "initials": "LP"}, {"family": "Raitakari", "given": "Olli T", "initials": "OT"}, {"family": "Barnes", "given": "Catriona L K", "initials": "CLK"}, {"family": "Campbell", "given": "Harry", "initials": "H"}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications.scilifelab.se/researcher/46050ddec8f64054b3bab46c5016aebf.json"}}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications.scilifelab.se/researcher/b39e6e0f7210494cb4f80be0f7413b6f.json"}}, {"family": "Isaacs", "given": "Aaron", "initials": "A", "orcid": "0000-0001-5037-4834", "researcher": {"href": "https://publications.scilifelab.se/researcher/38ebe49e62404f48bcb979d9671883e7.json"}}, {"family": "Kors", "given": "Jan A", "initials": "JA"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM", "orcid": "0000-0002-2374-9204", "researcher": {"href": "https://publications.scilifelab.se/researcher/354ccf94e95f40da96e61c89a0a60adb.json"}}, {"family": "Huang", "given": "Paul L", "initials": "PL"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V", "orcid": "0000-0001-5696-0084", "researcher": {"href": "https://publications.scilifelab.se/researcher/d18327939c1541acba054b2340ac174f.json"}}, {"family": "Harris", "given": "Tamara B", "initials": "TB"}, {"family": "Launer", "given": "Lenore J", "initials": "LJ"}, {"family": "Smith", "given": "Albert V", "initials": "AV", "orcid": "0000-0003-1942-5845", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b28739aa7d746718d670363d7c18a40.json"}}, {"family": "Bottinger", "given": "Erwin P", "initials": "EP"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications.scilifelab.se/researcher/e5b6c24c302d42828806076ded81afe1.json"}}, {"family": "Nadkarni", "given": "Girish N", "initials": "GN"}, {"family": "Preuss", "given": "Michael H", "initials": "MH", "orcid": "0000-0001-5266-8465", "researcher": {"href": "https://publications.scilifelab.se/researcher/15cc6eb5d229484bae01b80781eae224.json"}}, {"family": "Correa", "given": "Adolfo", "initials": "A", "orcid": "0000-0002-9501-600X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a12b716143c4156b060f87d5373b87d.json"}}, {"family": "Mei", "given": "Hao", "initials": "H"}, {"family": "Wilson", "given": "James", "initials": "J"}, {"family": "Meitinger", "given": "Thomas", "initials": "T"}, {"family": "M\u00fcller-Nurasyid", "given": "Martina", "initials": "M", "orcid": "0000-0003-3793-5910", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d21299bb41343f88142255e64a9da57.json"}}, {"family": "Peters", "given": "Annette", "initials": "A"}, {"family": "Waldenberger", "given": "Melanie", "initials": "M", "orcid": "0000-0003-0583-5093", "researcher": {"href": "https://publications.scilifelab.se/researcher/c8de22214f2448c6a7f86fc1040d0104.json"}}, {"family": "Mangino", "given": "Massimo", "initials": "M", "orcid": "0000-0002-2167-7470", "researcher": {"href": "https://publications.scilifelab.se/researcher/65f456a10f394f1294b60158c3fb9f04.json"}}, {"family": "Spector", "given": "Timothy D", "initials": "TD"}, {"family": "Rienstra", "given": "Michiel", "initials": "M", "orcid": "0000-0002-2581-070X", "researcher": {"href": "https://publications.scilifelab.se/researcher/59631fa00f1341c69ff195433b9558bc.json"}}, {"family": "van de Vegte", "given": "Yordi J", "initials": "YJ"}, {"family": "van der Harst", "given": "Pim", "initials": "P", "orcid": "0000-0002-2713-686X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a710eb0e12344e8fb5083599c95a1b2e.json"}}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications.scilifelab.se/researcher/7306319d42a640a483b937de588a17a4.json"}}, {"family": "K\u00e4\u00e4b", "given": "Stefan", "initials": "S"}, {"family": "Schramm", "given": "Katharina", "initials": "K"}, {"family": "Sinner", "given": "Moritz F", "initials": "MF"}, {"family": "Strauch", "given": "Konstantin", "initials": "K"}, {"family": "Cutler", "given": "Michael J", "initials": "MJ"}, {"family": "Fatkin", "given": "Diane", "initials": "D", "orcid": "0000-0002-9010-9856", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4e0723a6ce24bc1af21bad7908e9d7e.json"}}, {"family": "London", "given": "Barry", "initials": "B"}, {"family": "Olesen", "given": "Morten", "initials": "M"}, {"family": "Roden", "given": "Dan M", "initials": "DM"}, {"family": "Benjamin Shoemaker", "given": "M", "initials": "M"}, {"family": "Gustav Smith", "given": "J", "initials": "J"}, {"family": "Biggs", "given": "Mary L", "initials": "ML"}, {"family": "Bis", "given": "Joshua C", "initials": "JC"}, {"family": "Brody", "given": "Jennifer A", "initials": "JA", "orcid": "0000-0001-8509-148X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e137fc0192e4fa295a88589d57e3498.json"}}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Rice", "given": "Kenneth", "initials": "K", "orcid": "0000-0002-3071-7278", "researcher": {"href": "https://publications.scilifelab.se/researcher/5affb61f3ef141e8a6e7c7bfd2477ae3.json"}}, {"family": "Sotoodehnia", "given": "Nona", "initials": "N"}, {"family": "De Grandi", "given": "Alessandro", "initials": "A"}, {"family": "Fuchsberger", "given": "Christian", "initials": "C"}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a6a570bbec647b188c4a7a5da03caac.json"}}, {"family": "Pramstaller", "given": "Peter P", "initials": "PP"}, {"family": "Ford", "given": "Ian", "initials": "I"}, {"family": "Wouter Jukema", "given": "J", "initials": "J", "orcid": "0000-0002-3246-8359", "researcher": {"href": "https://publications.scilifelab.se/researcher/0479b794031d4df7bed96340b3470c19.json"}}, {"family": "Macfarlane", "given": "Peter W", "initials": "PW"}, {"family": "Trompet", "given": "Stella", "initials": "S"}, {"family": "D\u00f6rr", "given": "Marcus", "initials": "M"}, {"family": "Felix", "given": "Stephan B", "initials": "SB"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U"}, {"family": "Weiss", "given": "Stefan", "initials": "S", "orcid": "0000-0002-3553-4315", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a7c021b692c4fc1b2468c63fd0b2c43.json"}}, {"family": "Havulinna", "given": "Aki S", "initials": "AS", "orcid": "0000-0002-4787-8959", "researcher": {"href": "https://publications.scilifelab.se/researcher/8e148ef5315748d08461eda272e760c9.json"}}, {"family": "Jula", "given": "Antti", "initials": "A"}, {"family": "S\u00e4\u00e4ksj\u00e4rvi", "given": "Katri", "initials": "K", "orcid": "0000-0002-5061-4911", "researcher": {"href": "https://publications.scilifelab.se/researcher/35c11dc940c44f0481b33043c5db4d77.json"}}, {"family": "Salomaa", "given": "Veikko", "initials": "V", "orcid": 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"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": "a212f36b24ed408086fd6d1b5ab1eab5", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a212f36b24ed408086fd6d1b5ab1eab5.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a212f36b24ed408086fd6d1b5ab1eab5"}}, "title": "A catalog of genetic loci associated with kidney function from analyses of a million individuals.", "authors": [{"family": "Wuttke", "given": "Matthias", "initials": "M", "orcid": "0000-0003-3420-5082", "researcher": {"href": "https://publications.scilifelab.se/researcher/591c3f2263ba45feb7b31364f622f87a.json"}}, {"family": "Li", "given": "Yong", "initials": "Y", "orcid": "0000-0003-2651-8791", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c15132ea27d43a097e4f2672f5b00ce.json"}}, {"family": "Li", "given": "Man", "initials": "M", "orcid": "0000-0002-3839-0281", "researcher": {"href": "https://publications.scilifelab.se/researcher/42c39506589c43b783f9e00c32882045.json"}}, {"family": "Sieber", "given": "Karsten B", "initials": "KB"}, {"family": "Feitosa", "given": "Mary F", "initials": "MF", "orcid": "0000-0002-0933-2410", "researcher": {"href": "https://publications.scilifelab.se/researcher/6e386c235834430eafaaca06e312aeb8.json"}}, {"family": "Gorski", "given": "Mathias", "initials": "M"}, {"family": "Tin", "given": "Adrienne", "initials": "A", "orcid": "0000-0002-4207-5866", "researcher": {"href": 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"I", "orcid": "0000-0002-4275-9328", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe345914372c444c9d7c393aca13cba6.json"}}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG"}, {"family": "Vaccargiu", "given": "Simona", "initials": "S"}, {"family": "van Dam", "given": "Rob M", "initials": "RM"}, {"family": "van der Harst", "given": "Pim", "initials": "P", "orcid": "0000-0002-2713-686X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a710eb0e12344e8fb5083599c95a1b2e.json"}}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Velez Edward", "given": "Digna R", "initials": "DR"}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications.scilifelab.se/researcher/7306319d42a640a483b937de588a17a4.json"}}, {"family": "Vogelezang", "given": "Suzanne", "initials": "S"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U"}, {"family": "Vollenweider", "given": "Peter", "initials": "P"}, {"family": "Waeber", "given": "Gerard", "initials": "G"}, {"family": "Waldenberger", "given": "Melanie", "initials": "M"}, {"family": "Wallentin", "given": "Lars", "initials": "L"}, {"family": "Wang", "given": "Ya Xing", "initials": "YX", "orcid": "0000-0003-2749-7793", "researcher": {"href": "https://publications.scilifelab.se/researcher/a335d5361052470689def030e03e597b.json"}}, {"family": "Wang", "given": "Chaolong", "initials": "C"}, {"family": "Waterworth", "given": "Dawn M", "initials": "DM"}, {"family": "Bin Wei", "given": "Wen", "initials": "W"}, {"family": "White", "given": "Harvey", "initials": "H"}, {"family": "Whitfield", "given": "John B", "initials": "JB", "orcid": "0000-0002-1103-0876", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0f61a914f9748ee9047301da8026bd7.json"}}, {"family": "Wild", "given": "Sarah H", "initials": "SH"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications.scilifelab.se/researcher/b39e6e0f7210494cb4f80be0f7413b6f.json"}}, {"family": "Wojczynski", "given": "Mary K", "initials": "MK"}, {"family": "Wong", "given": "Charlene", "initials": "C"}, {"family": "Wong", "given": "Tien-Yin", "initials": "TY"}, {"family": "Xu", "given": "Liang", "initials": "L"}, {"family": "Yang", "given": "Qiong", "initials": "Q", "orcid": "0000-0002-3658-1375", "researcher": {"href": "https://publications.scilifelab.se/researcher/430f81a2a8334a0e887346376b2f530e.json"}}, {"family": "Yasuda", "given": "Masayuki", "initials": "M"}, {"family": "Yerges-Armstrong", "given": "Laura M", "initials": "LM"}, {"family": "Zhang", "given": "Weihua", "initials": "W"}, {"family": "Zonderman", "given": "Alan B", "initials": "AB"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Bochud", "given": "Murielle", "initials": "M"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Vitart", "given": "Veronique", "initials": "V", "orcid": "0000-0002-4991-3797", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ca9835a494849af861673bf7989b523.json"}}, {"family": "Wilson", "given": "James G", "initials": "JG"}, {"family": "Dehghan", "given": "Abbas", "initials": "A"}, {"family": "Parsa", "given": "Afshin", "initials": "A"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Ho", "given": "Kevin", "initials": "K"}, {"family": "Morris", "given": "Andrew P", "initials": "AP", "orcid": "0000-0002-6805-6014", "researcher": {"href": "https://publications.scilifelab.se/researcher/991fd686a4a040a1a197c1f32d5b731b.json"}}, {"family": "Devuyst", "given": "Olivier", "initials": "O"}, {"family": "Akilesh", "given": "Shreeram", "initials": "S"}, {"family": "Pendergrass", "given": "Sarah A", "initials": "SA"}, {"family": "Sim", "given": "Xueling", "initials": "X", "orcid": "0000-0002-1233-7642", "researcher": {"href": "https://publications.scilifelab.se/researcher/3216a8d2a7264a1390a886fa09d5d648.json"}}, {"family": "B\u00f6ger", "given": "Carsten A", "initials": "CA"}, {"family": "Okada", "given": "Yukinori", "initials": "Y", "orcid": "0000-0002-0311-8472", "researcher": {"href": "https://publications.scilifelab.se/researcher/40b13860bfef41959c29be2de853b456.json"}}, {"family": "Edwards", "given": "Todd L", "initials": "TL", "orcid": "0000-0003-4318-6119", "researcher": {"href": "https://publications.scilifelab.se/researcher/8d1a4d1672a042fa8befa086a92baadf.json"}}, {"family": "Snieder", "given": "Harold", "initials": "H"}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications.scilifelab.se/researcher/679465193fba4887a68e2aec34ccfd8e.json"}}, {"family": "Hung", "given": "Adriana M", "initials": "AM", "orcid": "0000-0002-3203-1608", "researcher": {"href": "https://publications.scilifelab.se/researcher/df3f5b6e8cb7470c880cff6dc960f283.json"}}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d7b0e2dcdb4361b54016cb1550c5fe.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4cb85a14da4db6bc932a8bc4148efb.json"}}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a6a570bbec647b188c4a7a5da03caac.json"}}], "type": "journal article", "published": "2019-06-00", "journal": {"volume": "51", "issn": "1546-1718", "issue": "6", "pages": "957-972", "title": "Nat. Genet.", "issn-l": "1061-4036"}, "abstract": "Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.", "doi": "10.1038/s41588-019-0407-x", "pmid": "31152163", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41588-019-0407-x"}, {"db": "pmc", "key": "PMC6698888"}, {"db": "mid", "key": "NIHMS1038587"}], "notes": [], "created": "2019-06-04T12:49:02.356Z", "modified": "2021-06-21T11:50:41.587Z"}, {"entity": "publication", "iuid": "ad07a7341fca458f96005a035573c8ce", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ad07a7341fca458f96005a035573c8ce.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ad07a7341fca458f96005a035573c8ce"}}, "title": "Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.", "authors": [{"family": "Jansen", "given": "Iris E", "initials": "IE", "orcid": "0000-0003-1901-8131", "researcher": {"href": "https://publications.scilifelab.se/researcher/0023d0046d8844abac6b071beabf71b8.json"}}, {"family": "Savage", "given": "Jeanne E", "initials": "JE", "orcid": "0000-0002-2034-8341", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8768341f7f44f449c2f70a493cc556d.json"}}, {"family": "Watanabe", "given": "Kyoko", "initials": "K"}, {"family": "Bryois", "given": "Julien", "initials": "J"}, {"family": "Williams", "given": "Dylan M", "initials": "DM"}, {"family": "Steinberg", "given": "Stacy", "initials": "S", "orcid": "0000-0001-7726-5152", "researcher": {"href": "https://publications.scilifelab.se/researcher/9051c5beba2742ffabdd386bf9939fd3.json"}}, {"family": "Sealock", "given": "Julia", "initials": "J"}, {"family": "Karlsson", "given": "Ida K", "initials": "IK"}, {"family": "H\u00e4gg", "given": "Sara", "initials": "S", "orcid": "0000-0002-2452-1500", "researcher": {"href": "https://publications.scilifelab.se/researcher/e1d010dfe5d84a33b6a6c7ec815ca3dc.json"}}, {"family": "Athanasiu", "given": "Lavinia", "initials": "L"}, {"family": "Voyle", "given": "Nicola", "initials": "N"}, {"family": "Proitsi", "given": "Petroula", "initials": "P", "orcid": "0000-0002-2553-6974", "researcher": {"href": "https://publications.scilifelab.se/researcher/724f31ac8bc746e7801728be49ab9cc2.json"}}, {"family": "Witoelar", "given": "Aree", "initials": "A"}, {"family": "Stringer", "given": "Sven", "initials": "S", "orcid": "0000-0003-3115-8532", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7e6ae56d0474688b3722f58d33f385d.json"}}, {"family": "Aarsland", "given": "Dag", "initials": "D", "orcid": "0000-0001-6314-216X", "researcher": {"href": "https://publications.scilifelab.se/researcher/121af6702db54d68b1ca94e8c22a8688.json"}}, {"family": "Almdahl", "given": "Ina S", "initials": "IS", "orcid": "0000-0001-6070-4921", "researcher": {"href": "https://publications.scilifelab.se/researcher/8c99e3bce167471ba669e820cc6e0839.json"}}, {"family": "Andersen", "given": "Fred", "initials": "F"}, {"family": "Bergh", "given": "Sverre", "initials": "S"}, {"family": "Bettella", "given": "Francesco", "initials": "F"}, {"family": "Bjornsson", "given": "Sigurbjorn", "initials": "S"}, {"family": "Br\u00e6khus", "given": "Anne", "initials": "A"}, {"family": "Br\u00e5then", "given": "Geir", "initials": "G", "orcid": "0000-0003-3224-7983", "researcher": {"href": "https://publications.scilifelab.se/researcher/52e7ea4ab30548829139064396d7c044.json"}}, {"family": "de Leeuw", "given": "Christiaan", "initials": "C", "orcid": "0000-0003-1076-9828", "researcher": {"href": "https://publications.scilifelab.se/researcher/54a93840c735496c81a9514bbc564849.json"}}, {"family": "Desikan", "given": "Rahul S", "initials": "RS"}, {"family": "Djurovic", "given": "Srdjan", "initials": "S", "orcid": "0000-0002-8140-8061", "researcher": {"href": "https://publications.scilifelab.se/researcher/906538321c8e4f38b6bb4a7b0bc18fa3.json"}}, {"family": "Dumitrescu", "given": "Logan", "initials": "L"}, {"family": "Fladby", "given": "Tormod", "initials": "T"}, {"family": "Hohman", "given": "Timothy J", "initials": "TJ", "orcid": "0000-0002-3377-7014", "researcher": {"href": "https://publications.scilifelab.se/researcher/079a5de2cf894db3b46faa3f6ba1e04e.json"}}, {"family": "Jonsson", "given": "Palmi V", "initials": "PV"}, {"family": "Kiddle", "given": "Steven J", "initials": "SJ", "orcid": "0000-0003-4350-7437", "researcher": {"href": "https://publications.scilifelab.se/researcher/6f86c2bca0014cf9aef8c215d97ce39c.json"}}, {"family": "Rongve", "given": "Arvid", "initials": "A"}, {"family": "Saltvedt", "given": "Ingvild", "initials": "I"}, {"family": "Sando", "given": "Sigrid B", "initials": "SB"}, {"family": "Selb\u00e6k", "given": "Geir", "initials": "G"}, {"family": "Shoai", "given": "Maryam", "initials": "M"}, {"family": "Skene", "given": "Nathan G", "initials": "NG", "orcid": "0000-0002-6807-3180", "researcher": {"href": "https://publications.scilifelab.se/researcher/0b4340cc0fa948eda26ce5618ebc0693.json"}}, {"family": "Snaedal", "given": "Jon", "initials": "J"}, {"family": "Stordal", "given": "Eystein", "initials": "E", "orcid": "0000-0002-2443-7923", "researcher": {"href": "https://publications.scilifelab.se/researcher/6eacc414991448c38cee92ac328eb4d3.json"}}, {"family": "Ulstein", "given": "Ingun D", "initials": "ID"}, {"family": "Wang", "given": "Yunpeng", "initials": "Y"}, {"family": "White", "given": "Linda R", "initials": "LR"}, {"family": "Hardy", "given": "John", "initials": "J"}, {"family": "Hjerling-Leffler", "given": "Jens", "initials": "J", "orcid": "0000-0002-4539-1776", "researcher": {"href": "https://publications.scilifelab.se/researcher/51675f0ff9aa47d89d6b2eb84a14820a.json"}}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF"}, {"family": "van der Flier", "given": "Wiesje M", "initials": "WM"}, {"family": "Dobson", "given": "Richard", "initials": "R", "orcid": "0000-0003-4224-9245", "researcher": {"href": "https://publications.scilifelab.se/researcher/098ba38a51a64ba89362ed2a2e51455f.json"}}, {"family": "Davis", "given": "Lea K", "initials": "LK", "orcid": "0000-0001-5143-2282", "researcher": {"href": "https://publications.scilifelab.se/researcher/60132a034c8d412dbbb7fedbc9743d81.json"}}, {"family": "Stefansson", "given": "Hreinn", "initials": "H"}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications.scilifelab.se/researcher/679465193fba4887a68e2aec34ccfd8e.json"}}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Ripke", "given": "Stephan", "initials": "S"}, {"family": "Andreassen", "given": "Ole A", "initials": "OA", "orcid": "0000-0002-4461-3568", "researcher": {"href": "https://publications.scilifelab.se/researcher/56f384e8e2fd4a7383c7b26e88a828b2.json"}}, {"family": "Posthuma", "given": "Danielle", "initials": "D", "orcid": "0000-0001-7582-2365", "researcher": {"href": "https://publications.scilifelab.se/researcher/406e98180d174e8ca087f50074c025c9.json"}}], "type": "journal article", "published": "2019-03-00", "journal": {"volume": "51", "issn": "1546-1718", "issue": "3", "pages": "404-413", "title": "Nat. Genet.", "issn-l": "1061-4036"}, "abstract": "Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20 disease-associated genomic loci. Yet these only explain a small proportion of the genetic variance, indicating that undiscovered loci remain. Here, we performed a large genome-wide association study of clinically diagnosed AD and AD-by-proxy (71,880 cases, 383,378 controls). AD-by-proxy, based on parental diagnoses, showed strong genetic correlation with AD (rg = 0.81). Meta-analysis identified 29 risk loci, implicating 215 potential causative genes. Associated genes are strongly expressed in immune-related tissues and cell types (spleen, liver, and microglia). Gene-set analyses indicate biological mechanisms involved in lipid-related processes and degradation of amyloid precursor proteins. We show strong genetic correlations with multiple health-related outcomes, and Mendelian randomization results suggest a protective effect of cognitive ability on AD risk. These results are a step forward in identifying the genetic factors that contribute to AD risk and add novel insights into the neurobiology of AD.", "doi": "10.1038/s41588-018-0311-9", "pmid": "30617256", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "mid", "key": "NIHMS1031924"}, {"db": "pmc", "key": "PMC6836675"}, {"db": "pii", "key": "10.1038/s41588-018-0311-9"}], "notes": [], "created": "2019-03-13T09:21:28.969Z", "modified": "2023-06-20T15:57:06.709Z"}]}