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{"href": "https://publications.scilifelab.se/researcher/0479b794031d4df7bed96340b3470c19.json"}}, {"family": "Rissanen", "given": "Ina L", "initials": "IL"}, {"family": "Strbian", "given": "Daniel", "initials": "D"}, {"family": "Kim", "given": "Young Jin", "initials": "YJ", "orcid": "0000-0002-4132-4437", "researcher": {"href": "https://publications.scilifelab.se/researcher/a35fb5992bad47038fe5b11c7ed3103f.json"}}, {"family": "Chen", "given": "Pei-Hsin", "initials": "PH"}, {"family": "Mayerhofer", "given": "Ernst", "initials": "E", "orcid": "0000-0001-8902-4209", "researcher": {"href": "https://publications.scilifelab.se/researcher/ce3b53243f0e4a6da6b8ac762ab07a8b.json"}}, {"family": "Howson", "given": "Joanna M M", "initials": "JMM", "orcid": "0000-0001-7618-0050", "researcher": {"href": "https://publications.scilifelab.se/researcher/d427fc29d217410fa1d84c0f9e2bf015.json"}}, {"family": "Irvin", "given": "Marguerite R", "initials": "MR"}, {"family": "Adams", "given": "Hieab", "initials": "H", "orcid": "0000-0003-3687-2508", "researcher": {"href": "https://publications.scilifelab.se/researcher/ab5c4744d60d4290a3a8a6b80c107f42.json"}}, {"family": "Wassertheil-Smoller", "given": "Sylvia", "initials": "S", "orcid": "0000-0002-5447-4653", "researcher": {"href": "https://publications.scilifelab.se/researcher/d091e3704a9948209449f28c974181a8.json"}}, {"family": "Christensen", "given": "Kaare", "initials": "K", "orcid": "0000-0002-5429-5292", "researcher": {"href": "https://publications.scilifelab.se/researcher/e79ea43d09544efc95351b52ac682910.json"}}, {"family": "Ikram", "given": "Mohammad A", "initials": "MA", "orcid": "0000-0003-0372-8585", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ec81571f4a94af682b4e23526f87385.json"}}, {"family": "Rundek", "given": "Tatjana", "initials": "T", "orcid": "0000-0002-7115-9815", "researcher": {"href": "https://publications.scilifelab.se/researcher/34ebc54256244a76a59f4eef9540522c.json"}}, {"family": "Worrall", "given": "Bradford B", "initials": "BB", "orcid": "0000-0001-9386-4091", "researcher": {"href": "https://publications.scilifelab.se/researcher/159cc0760bf542129d186e25dfde87bc.json"}}, {"family": "Lathrop", "given": "G Mark", "initials": "GM"}, {"family": "Riaz", "given": "Moeen", "initials": "M"}, {"family": "Simonsick", "given": "Eleanor M", "initials": "EM"}, {"family": "K\u00f5rv", "given": "Janika", "initials": "J", "orcid": "0000-0002-6074-0727", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9943be062e54db085c24868a871404f.json"}}, {"family": "Fran\u00e7a", "given": "Paulo H C", "initials": "PHC", "orcid": "0000-0002-1750-9132", "researcher": {"href": "https://publications.scilifelab.se/researcher/0d3c1d16b0e54523b12c12e52f245fda.json"}}, {"family": "Zand", "given": "Ramin", "initials": "R"}, {"family": "Prasad", "given": "Kameshwar", "initials": "K"}, {"family": "Frikke-Schmidt", "given": "Ruth", "initials": "R", "orcid": "0000-0003-4084-5027", "researcher": {"href": "https://publications.scilifelab.se/researcher/740b72fe0c02411094886de5b2e705ec.json"}}, {"family": "de Leeuw", "given": "Frank-Erik", "initials": "FE"}, {"family": "Liman", "given": "Thomas", "initials": "T"}, {"family": "Haeusler", "given": "Karl Georg", "initials": "KG", "orcid": "0000-0002-6389-5054", "researcher": {"href": "https://publications.scilifelab.se/researcher/63ced1b703e342acb1bf978473feeb61.json"}}, {"family": "Ruigrok", "given": "Ynte M", "initials": "YM"}, {"family": "Heuschmann", "given": "Peter Ulrich", "initials": "PU", "orcid": "0000-0002-2681-3515", "researcher": {"href": "https://publications.scilifelab.se/researcher/3f07487486974308b2b315200c2a8ee8.json"}}, {"family": "Longstreth", "given": "W T", "initials": "WT"}, {"family": "Jung", "given": "Keum Ji", "initials": "KJ"}, {"family": "Bastarache", "given": "Lisa", "initials": "L"}, {"family": "Par\u00e9", "given": "Guillaume", "initials": "G", "orcid": "0000-0002-6795-4760", "researcher": {"href": "https://publications.scilifelab.se/researcher/4e23d12d8f5340a79e86a293593c9598.json"}}, {"family": "Damrauer", "given": "Scott M", "initials": "SM"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI", "orcid": "0000-0003-3357-0862", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c06690291064fe58836958edbcaafbc.json"}}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Anderson", "given": "Christopher D", "initials": "CD"}, {"family": "Zwart", "given": "John-Anker", "initials": "JA", "orcid": "0000-0001-5721-0154", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6ba64e625064349b7405b23439e1bfe.json"}}, {"family": "Niiranen", "given": "Teemu J", "initials": "TJ", "orcid": "0000-0002-7394-7487", "researcher": {"href": "https://publications.scilifelab.se/researcher/d52ad3773441442fbad63cbe33959735.json"}}, {"family": "Fornage", "given": "Myriam", "initials": "M", "orcid": "0000-0003-0677-8158", "researcher": {"href": "https://publications.scilifelab.se/researcher/b5de431c325e40f4adfe13c06cf1e0b9.json"}}, {"family": "Liaw", "given": "Yung-Po", "initials": "YP"}, {"family": "Seshadri", "given": "Sudha", "initials": "S", "orcid": "0000-0001-6135-2622", "researcher": {"href": "https://publications.scilifelab.se/researcher/429e370668ec47ce9945bc5262dccbb3.json"}}, {"family": "Fern\u00e1ndez-Cadenas", "given": "Israel", "initials": "I"}, {"family": "Walters", "given": "Robin G", "initials": "RG", "orcid": "0000-0002-9179-0321", "researcher": {"href": "https://publications.scilifelab.se/researcher/f36254611faa44b782b76da870e89bd3.json"}}, {"family": "Ruff", "given": "Christian T", "initials": "CT"}, {"family": "Owolabi", "given": "Mayowa O", "initials": "MO", "orcid": "0000-0003-1146-3070", "researcher": {"href": "https://publications.scilifelab.se/researcher/9ad3b2f403a34896a655f9c318af4c17.json"}}, {"family": "Huffman", "given": "Jennifer E", "initials": "JE", "orcid": "0000-0002-9672-2491", "researcher": {"href": "https://publications.scilifelab.se/researcher/cfa4efb5afae47528265d8be0d5e67fd.json"}}, {"family": "Milani", "given": "Lili", "initials": "L", "orcid": "0000-0002-5323-3102", "researcher": {"href": "https://publications.scilifelab.se/researcher/dec8d00c4b9d43458c5c895b164695d5.json"}}, {"family": "Kamatani", "given": "Yoichiro", "initials": "Y"}, {"family": "Dichgans", "given": "Martin", "initials": "M", "orcid": "0000-0002-0654-387X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f41f224e973440f6a78a49b54ca35e3a.json"}}, {"family": "Debette", "given": "Stephanie", "initials": "S"}], "type": "journal article", "published": "2022-11-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "611", "issue": "7934", "pages": "115-123", "issn-l": "0028-0836"}, "abstract": "Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries.", "doi": "10.1038/s41586-022-05165-3", "pmid": "36180795", "labels": {"National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41586-022-05165-3"}, {"db": "pmc", "key": "PMC9524349"}], "notes": [], "created": "2022-11-09T14:36:41.202Z", "modified": "2022-11-09T14:37:47.411Z"}, {"entity": "publication", "iuid": "d9be4ec5baae47499d9976f9b113a4d0", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d9be4ec5baae47499d9976f9b113a4d0.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d9be4ec5baae47499d9976f9b113a4d0"}}, "title": "Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.", "authors": [{"family": "Butler-Laporte", "given": "Guillaume", "initials": "G", "orcid": "0000-0001-5388-0396", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c165ac40c3c409b93acbb13ac63579a.json"}}, {"family": "Povysil", "given": "Gundula", "initials": "G", "orcid": "0000-0003-4625-5909", "researcher": {"href": "https://publications.scilifelab.se/researcher/78129fef5aad4ba8ad154d9a4908974f.json"}}, {"family": "Kosmicki", "given": "Jack A", "initials": "JA", "orcid": "0000-0003-1252-6192", "researcher": {"href": "https://publications.scilifelab.se/researcher/21b8896b49bd48a6b9b21b84a76cda41.json"}}, {"family": "Cirulli", "given": "Elizabeth T", "initials": "ET", "orcid": "0000-0001-7808-2809", "researcher": {"href": "https://publications.scilifelab.se/researcher/566755e2fb34412c93b01245e512f9fd.json"}}, {"family": "Drivas", "given": "Theodore", "initials": "T", "orcid": "0000-0002-8717-0111", "researcher": {"href": "https://publications.scilifelab.se/researcher/0adcb730c0f644ceb712e774801cb74a.json"}}, {"family": "Furini", "given": "Simone", "initials": "S"}, {"family": "Saad", "given": "Chadi", "initials": "C", "orcid": "0000-0001-6963-9126", "researcher": {"href": "https://publications.scilifelab.se/researcher/ac0b588b98a7496aa8a422ce08dd89c9.json"}}, {"family": "Schmidt", "given": "Axel", "initials": "A", "orcid": "0000-0002-1185-3012", "researcher": {"href": "https://publications.scilifelab.se/researcher/3708b225fbae4c239bdc3bea34beff17.json"}}, {"family": "Olszewski", "given": "Pawel", "initials": "P", "orcid": "0000-0003-1010-8843", "researcher": {"href": "https://publications.scilifelab.se/researcher/175cf3dd63e54f7c919ed3b1de3d4b11.json"}}, {"family": "Korotko", "given": "Urszula", "initials": "U", "orcid": "0000-0002-1779-8368", "researcher": {"href": "https://publications.scilifelab.se/researcher/9960078bdffa4561a9111e37390c44eb.json"}}, {"family": "Quinodoz", "given": "Mathieu", "initials": "M", "orcid": "0000-0002-9841-4433", "researcher": {"href": "https://publications.scilifelab.se/researcher/140e63b09c3340a0ae6aeb8124ea15b1.json"}}, {"family": "\u00c7elik", "given": "Elifnaz", "initials": "E", "orcid": "0000-0002-0324-5228", "researcher": {"href": "https://publications.scilifelab.se/researcher/68a15c971dbe44bda2ee9381196c6f23.json"}}, {"family": "Kundu", "given": "Kousik", "initials": "K", "orcid": "0000-0002-1019-8351", "researcher": {"href": "https://publications.scilifelab.se/researcher/55dbffb9b2234f8db2b17025bd053aa7.json"}}, {"family": "Walter", "given": "Klaudia", "initials": "K", "orcid": "0000-0003-4448-0301", "researcher": {"href": "https://publications.scilifelab.se/researcher/bd5029beabb34e18869a535f9578bbd6.json"}}, {"family": "Jung", "given": "Junghyun", "initials": "J"}, {"family": "Stockwell", "given": "Amy D", "initials": "AD"}, {"family": "Sloofman", "given": "Laura G", "initials": "LG", "orcid": "0000-0001-7628-4378", "researcher": {"href": "https://publications.scilifelab.se/researcher/03b834030a6e4aef8e9340a0a8bab91d.json"}}, {"family": "Jordan", "given": "Daniel M", "initials": "DM", "orcid": "0000-0002-5318-8225", "researcher": {"href": "https://publications.scilifelab.se/researcher/b5123b5265ee4ba5ab7e23ffaa9177ca.json"}}, {"family": "Thompson", "given": "Ryan C", "initials": "RC", "orcid": "0000-0002-0450-8181", "researcher": {"href": "https://publications.scilifelab.se/researcher/18e5041ace5249e9b5eda7ffd7e8fdbb.json"}}, {"family": "Del Valle", "given": "Diane", "initials": "D", "orcid": "0000-0001-6983-5362", "researcher": {"href": "https://publications.scilifelab.se/researcher/e63491ffb2b34e40b038c46206561813.json"}}, {"family": "Simons", "given": "Nicole", "initials": "N", "orcid": "0000-0002-3952-1458", "researcher": {"href": "https://publications.scilifelab.se/researcher/989038ff4ca94453a1c53435a13b0936.json"}}, {"family": "Cheng", "given": "Esther", "initials": "E"}, {"family": "Sebra", "given": "Robert", "initials": "R"}, {"family": "Schadt", "given": "Eric E", "initials": "EE"}, {"family": "Kim-Schulze", "given": "Seunghee", "initials": "S"}, {"family": "Gnjatic", "given": "Sacha", "initials": "S"}, {"family": "Merad", "given": "Miriam", "initials": "M"}, {"family": "Buxbaum", "given": "Joseph D", "initials": "JD"}, {"family": "Beckmann", "given": "Noam D", "initials": "ND"}, {"family": "Charney", "given": "Alexander W", "initials": "AW"}, {"family": "Przychodzen", "given": "Bartlomiej", "initials": "B"}, {"family": "Chang", "given": "Timothy", "initials": "T", "orcid": "0000-0002-9225-9874", "researcher": {"href": "https://publications.scilifelab.se/researcher/1a8e6da514524249bf7f659e6ac0fd37.json"}}, {"family": "Pottinger", "given": "Tess D", "initials": "TD"}, {"family": "Shang", "given": "Ning", "initials": "N"}, {"family": "Brand", "given": "Fabian", "initials": "F", "orcid": "0000-0003-1885-7021", "researcher": {"href": 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"Olaf", "initials": "O"}, {"family": "Moniuszko", "given": "Marcin", "initials": "M"}, {"family": "Kwasniewski", "given": "Miroslaw", "initials": "M"}, {"family": "Mbarek", "given": "Hamdi", "initials": "H", "orcid": "0000-0002-1108-0371", "researcher": {"href": "https://publications.scilifelab.se/researcher/a50439a056e94688a64751e2bdc7c502.json"}}, {"family": "Ismail", "given": "Said I", "initials": "SI"}, {"family": "Verma", "given": "Anurag", "initials": "A", "orcid": "0000-0002-5063-9107", "researcher": {"href": "https://publications.scilifelab.se/researcher/556096ea8651491caa5daf52e10f79da.json"}}, {"family": "Goldstein", "given": "David B", "initials": "DB", "orcid": "0000-0001-7627-0259", "researcher": {"href": "https://publications.scilifelab.se/researcher/6e797709a3f9473c851d79ababa3e680.json"}}, {"family": "Kiryluk", "given": "Krzysztof", "initials": "K", "orcid": "0000-0002-5047-6715", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6e7b5668c0141728599d5ebb68c8929.json"}}, {"family": "Renieri", "given": "Alessandra", "initials": "A", "orcid": "0000-0002-0846-9220", "researcher": {"href": "https://publications.scilifelab.se/researcher/3dbf990f1e0c4fd99e45c945915f25b0.json"}}, {"family": "Ferreira", "given": "Manuel A R", "initials": "MAR", "orcid": "0000-0001-9059-1825", "researcher": {"href": "https://publications.scilifelab.se/researcher/d27aef5015494b018b22352125c0225d.json"}}, {"family": "Richards", "given": "J Brent", "initials": "JB", "orcid": "0000-0002-3746-9086", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2c20c901fd041c194dae79b29b94ec2.json"}}], "type": "journal article", "published": "2022-11-00", "journal": {"title": "PLoS Genet.", "issn": "1553-7404", "issn-l": "1553-7390", "volume": "18", "issue": "11", "pages": "e1010367"}, "abstract": "Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.", "doi": "10.1371/journal.pgen.1010367", "pmid": "36327219", "labels": {"NGI Short read": "Collaborative", "NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative", "National Genomics Infrastructure": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC9632827"}, {"db": "pii", "key": "PGENETICS-D-22-00434"}], "notes": [], "created": "2022-11-29T14:02:16.675Z", "modified": "2023-06-16T12:55:14.973Z"}, {"entity": "publication", "iuid": "20044ca7f045473daf17863e0344b451", "links": {"self": {"href": "https://publications.scilifelab.se/publication/20044ca7f045473daf17863e0344b451.json"}, "display": {"href": "https://publications.scilifelab.se/publication/20044ca7f045473daf17863e0344b451"}}, "title": "Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.", "authors": [{"family": "Winkler", "given": "Thomas W", "initials": "TW", "orcid": "0000-0003-0292-5421", "researcher": {"href": "https://publications.scilifelab.se/researcher/613c02e5736a4357bcfff184bebb714e.json"}}, {"family": "Rasheed", "given": "Humaira", "initials": "H", "orcid": "0000-0002-3331-5864", "researcher": {"href": "https://publications.scilifelab.se/researcher/bfbae7ea55074f9292e48aaf6d815a03.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}, {"family": "Gorski", "given": "Mathias", "initials": "M"}, {"family": "Rowan", "given": "Bryce X", "initials": "BX"}, {"family": "Stanzick", "given": "Kira J", "initials": "KJ"}, {"family": "Thomas", "given": "Laurent F", "initials": "LF"}, {"family": "Tin", "given": "Adrienne", "initials": "A", "orcid": "0000-0002-4207-5866", "researcher": {"href": 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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": "e389be71822d45d6ac04d848bfb48df6", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e389be71822d45d6ac04d848bfb48df6.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e389be71822d45d6ac04d848bfb48df6"}}, "title": "The power of genetic diversity in genome-wide association studies of lipids.", "authors": [{"family": "Graham", "given": "Sarah E", "initials": "SE", "orcid": "0000-0003-1271-2489", 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"initials": "CJ"}, {"family": "Gaziano", "given": "John M", "initials": "JM"}, {"family": "Wilson", "given": "Peter", "initials": "P"}, {"family": "Rotimi", "given": "Charles N", "initials": "CN", "orcid": "0000-0001-5759-053X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7fa2951fdebf4fddaad296d49b8f3f2b.json"}}, {"family": "Hazelhurst", "given": "Scott", "initials": "S"}, {"family": "Ramsay", "given": "Mich\u00e8le", "initials": "M", "orcid": "0000-0002-4156-4801", "researcher": {"href": "https://publications.scilifelab.se/researcher/31f970ff8b574a2290447b9626411d63.json"}}, {"family": "Trembath", "given": "Richard C", "initials": "RC"}, {"family": "van Heel", "given": "David A", "initials": "DA", "orcid": "0000-0002-0637-2265", "researcher": {"href": "https://publications.scilifelab.se/researcher/487906b4266443eab6fbe65e942bb5fe.json"}}, {"family": "Tamiya", "given": "Gen", "initials": "G"}, {"family": "Yamamoto", "given": "Masayuki", "initials": "M", "orcid": "0000-0002-9073-9436", "researcher": {"href": "https://publications.scilifelab.se/researcher/c566d57cdf9b43498cd9583fbb6c4c73.json"}}, {"family": "Kim", "given": "Bong-Jo", "initials": "BJ"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c11d7ab911243edb9e2696efd95ecd4.json"}}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN", "orcid": "0000-0002-1650-7901", "researcher": {"href": "https://publications.scilifelab.se/researcher/79e3bb42733c4904a4543cb3b6397c0f.json"}}, {"family": "Kathiresan", "given": "Sekar", "initials": "S"}, {"family": "VA Million Veteran Program", "given": "", "initials": ""}, {"family": "Global Lipids Genetics Consortium*", "given": "", "initials": ""}, {"family": "Boehnke", "given": "Michael", "initials": "M", "orcid": "0000-0002-6442-7754", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8cb72bdcea4492199a1b9d8ac406ac7.json"}}, {"family": "Natarajan", "given": "Pradeep", "initials": "P"}, {"family": "Peloso", "given": "Gina M", "initials": "GM", "orcid": "0000-0002-5355-8636", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a0c07ebec3741efa6ef71d416e7c66a.json"}}, {"family": "Brown", "given": "Christopher D", "initials": "CD"}, {"family": "Morris", "given": "Andrew P", "initials": "AP", "orcid": "0000-0002-6805-6014", "researcher": {"href": "https://publications.scilifelab.se/researcher/991fd686a4a040a1a197c1f32d5b731b.json"}}, {"family": "Assimes", "given": "Themistocles L", "initials": "TL", "orcid": "0000-0003-2349-0009", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e155ca3dd01486580be888d1ded405c.json"}}, {"family": "Deloukas", "given": "Panos", "initials": "P", "orcid": "0000-0001-9251-070X", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb59dbd2f2204d41b801c41188611a9e.json"}}, {"family": "Sun", "given": "Yan V", "initials": "YV", "orcid": "0000-0002-2838-1824", "researcher": {"href": "https://publications.scilifelab.se/researcher/c6299caf6b6342fdbfab4c0d9738b28f.json"}}, {"family": "Willer", "given": "Cristen J", "initials": "CJ", "orcid": "0000-0001-5645-4966", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3a8e1d33146452b87e7e21eb5339f80.json"}}], "type": "journal article", "published": "2021-12-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "600", "issue": "7890", "pages": "675-679", "issn-l": "0028-0836"}, "abstract": "Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treatment, in particular through reducing low-density lipoprotein cholesterol levels2, heart disease remains the leading cause of death worldwide3. Genome-wideassociation studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS4-23 have been conducted in European ancestry populations and may have missed genetic variants that contribute to lipid-level variation in other ancestry groups. These include differences in allele frequencies, effect sizes and linkage-disequilibrium patterns24. Here we conduct a multi-ancestry, genome-wide genetic discovery meta-analysis of lipid levels in approximately 1.65 million individuals, including 350,000 of non-European ancestries. We quantify the gain in studying non-European ancestries and provide evidence to support the expansion of recruitment of additional ancestries, even with relatively small sample sizes. We find that increasing diversity rather than studying additional individuals of European ancestry results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction (evaluated in approximately 295,000 individuals from 7 ancestry groupings). Modest gains in the number of discovered loci and ancestry-specific variants were also achieved. As GWAS expand emphasis beyond the identification of genes and fundamental biology towards the use of genetic variants for preventive and precision medicine25, we anticipate that increased diversity of participants will lead to more accurate and equitable26 application of polygenic scores in clinical practice.", "doi": "10.1038/s41586-021-04064-3", "pmid": "34887591", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS1758809"}, {"db": "pmc", "key": "PMC8730582"}, {"db": "pii", "key": "10.1038/s41586-021-04064-3"}], "notes": [], "created": "2021-12-22T19:39:50.082Z", "modified": "2023-06-19T12:31:07.699Z"}, {"entity": "publication", "iuid": "89c87476555544e39ef6bf6717603f84", "links": {"self": {"href": "https://publications.scilifelab.se/publication/89c87476555544e39ef6bf6717603f84.json"}, "display": {"href": "https://publications.scilifelab.se/publication/89c87476555544e39ef6bf6717603f84"}}, "title": "Associations of autozygosity with a broad range of human phenotypes.", "authors": [{"family": "Clark", "given": "David W", "initials": "DW", "orcid": "0000-0002-1025-9185", "researcher": {"href": "https://publications.scilifelab.se/researcher/a71ee9badf4f458d9b04ebf89f5f16c9.json"}}, {"family": "Okada", "given": "Yukinori", "initials": "Y", "orcid": "0000-0002-0311-8472", "researcher": {"href": "https://publications.scilifelab.se/researcher/40b13860bfef41959c29be2de853b456.json"}}, {"family": "Moore", "given": "Kristjan H S", "initials": "KHS", "orcid": "0000-0002-9579-4362", "researcher": {"href": "https://publications.scilifelab.se/researcher/38a8eaf6f23c4dd9a90cda85b0a998b5.json"}}, {"family": "Mason", "given": "Dan", "initials": "D", "orcid": "0000-0002-0026-9216", "researcher": {"href": "https://publications.scilifelab.se/researcher/3e9d969adc0849ab83d0080430bb6758.json"}}, {"family": "Pirastu", "given": "Nicola", "initials": "N", "orcid": "0000-0002-5363-3886", "researcher": {"href": "https://publications.scilifelab.se/researcher/badf4678d37546ce993bccb3880d4f12.json"}}, {"family": "Gandin", "given": "Ilaria", "initials": "I", "orcid": "0000-0003-3196-2491", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee19a08d128d40cf8bffcff35e37481d.json"}}, {"family": "Mattsson", "given": "Hannele", "initials": "H"}, {"family": "Barnes", "given": "Catriona L K", "initials": "CLK"}, {"family": "Lin", "given": "Kuang", "initials": "K"}, {"family": "Zhao", "given": "Jing Hua", "initials": "JH"}, {"family": "Deelen", "given": "Patrick", "initials": "P", "orcid": "0000-0002-5654-3966", "researcher": {"href": "https://publications.scilifelab.se/researcher/29b4f65a7b6e454d92315f99841f0e70.json"}}, {"family": "Rohde", "given": "Rebecca", "initials": "R"}, {"family": "Schurmann", "given": "Claudia", "initials": "C", "orcid": "0000-0003-4158-9192", "researcher": {"href": "https://publications.scilifelab.se/researcher/357aae1711d34a0e993b10c93c73cfb4.json"}}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Giulianini", "given": "Franco", "initials": "F"}, {"family": "Zhang", "given": "Weihua", "initials": "W"}, {"family": "Medina-Gomez", "given": "Carolina", "initials": "C", "orcid": "0000-0001-7999-5538", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1f97914d1c34f1f8190738c2d2e27b0.json"}}, {"family": "Karlsson", "given": "Robert", "initials": "R", "orcid": "0000-0002-8949-2587", "researcher": {"href": "https://publications.scilifelab.se/researcher/9df14bf33f3342408d624caa70d45b7c.json"}}, {"family": "Bao", "given": "Yanchun", "initials": "Y", "orcid": "0000-0002-6102-5098", "researcher": {"href": "https://publications.scilifelab.se/researcher/edd80af47df24a508164d6b550093563.json"}}, {"family": "Bartz", "given": "Traci M", "initials": "TM"}, {"family": "Baumbach", "given": "Clemens", "initials": "C"}, {"family": "Biino", "given": "Ginevra", "initials": "G", "orcid": "0000-0002-9936-946X", "researcher": {"href": "https://publications.scilifelab.se/researcher/791ca64b8e7c4930a8727ea9a52a5c15.json"}}, {"family": "Bixley", "given": "Matthew J", "initials": "MJ"}, {"family": "Brumat", "given": "Marco", "initials": "M", "orcid": "0000-0003-3268-039X", "researcher": {"href": "https://publications.scilifelab.se/researcher/422e5540e38047cfaa64708b0b118760.json"}}, {"family": "Chai", "given": "Jin-Fang", "initials": "JF", "orcid": "0000-0003-3770-1137", "researcher": {"href": "https://publications.scilifelab.se/researcher/7cac060e59cd405b94a588203b5955ca.json"}}, {"family": "Corre", "given": "Tanguy", "initials": "T"}, {"family": "Cousminer", "given": "Diana L", "initials": "DL"}, {"family": "Dekker", "given": "Annelot M", "initials": "AM"}, {"family": "Eccles", "given": "David A", "initials": "DA", "orcid": "0000-0003-4634-4995", "researcher": {"href": "https://publications.scilifelab.se/researcher/94670fee34be4f47ab7cf5c46a054fa4.json"}}, {"family": "van Eijk", "given": "Kristel R", "initials": "KR"}, {"family": "Fuchsberger", "given": "Christian", "initials": "C"}, {"family": "Gao", "given": "He", "initials": "H"}, {"family": "Germain", "given": "Marine", "initials": "M"}, {"family": "Gordon", "given": "Scott D", "initials": "SD", "orcid": "0000-0001-7623-328X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8815739662214e75b60f71f0b1ca58a6.json"}}, {"family": "de Haan", "given": "Hugoline G", "initials": "HG"}, {"family": "Harris", "given": "Sarah E", "initials": "SE", "orcid": "0000-0002-4941-5106", "researcher": {"href": "https://publications.scilifelab.se/researcher/1bbd06383e594035ab80af3bcdb29f91.json"}}, {"family": "Hofer", "given": "Edith", "initials": "E"}, {"family": "Huerta-Chagoya", "given": "Alicia", "initials": "A"}, {"family": "Igartua", "given": "Catherine", "initials": "C"}, {"family": "Jansen", "given": "Iris E", "initials": "IE"}, {"family": "Jia", "given": "Yucheng", "initials": "Y"}, {"family": "Kacprowski", "given": "Tim", "initials": "T", "orcid": "0000-0002-5393-2413", "researcher": {"href": "https://publications.scilifelab.se/researcher/a5e640df1f184777a3066805d02a67c7.json"}}, {"family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "researcher": {"href": "https://publications.scilifelab.se/researcher/691d6823b8e04c5abf1613513da32b08.json"}}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": "0000-0003-0663-7275", "researcher": {"href": "https://publications.scilifelab.se/researcher/a51175112cfb4721b8c9fbfdc71c4307.json"}}, {"family": "Li", "given": "Shengchao Alfred", "initials": "SA"}, {"family": "Li-Gao", "given": "Ruifang", "initials": "R"}, {"family": "Mahajan", "given": "Anubha", "initials": "A", "orcid": "0000-0001-5585-3420", "researcher": {"href": "https://publications.scilifelab.se/researcher/194be8a851164e2ea4d004dd2febc9be.json"}}, {"family": "Matsuda", "given": "Koichi", "initials": "K", "orcid": "0000-0001-7292-2686", "researcher": {"href": "https://publications.scilifelab.se/researcher/016c48eb6c8341b7b593c4b1c9e39266.json"}}, {"family": "Meidtner", "given": "Karina", "initials": "K"}, {"family": "Meng", "given": "Weihua", "initials": "W", "orcid": "0000-0001-5388-8494", "researcher": {"href": "https://publications.scilifelab.se/researcher/cdb05cc4a7554f4d8fdc57ec60b542d2.json"}}, {"family": "Montasser", "given": "May E", "initials": "ME"}, {"family": "van der Most", "given": "Peter J", "initials": "PJ", "orcid": "0000-0001-8450-3518", "researcher": {"href": "https://publications.scilifelab.se/researcher/17cd11842111490ba5460f3093a366f3.json"}}, {"family": "Munz", "given": "Matthias", "initials": "M", "orcid": "0000-0002-4728-3357", "researcher": {"href": 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"initials": "BR"}, {"family": "Shriner", "given": "Daniel", "initials": "D"}, {"family": "Skotte", "given": "Line", "initials": "L", "orcid": "0000-0002-7398-1271", "researcher": {"href": "https://publications.scilifelab.se/researcher/8078f2481d644ec8a53c28570e9af119.json"}}, {"family": "Smart", "given": "Melissa C", "initials": "MC"}, {"family": "Smith", "given": "Albert Vernon", "initials": "AV"}, {"family": "van der Spek", "given": "Ashley", "initials": "A", "orcid": "0000-0001-7136-0159", "researcher": {"href": "https://publications.scilifelab.se/researcher/85d1ebe3cc5d4ff89d89a4dbead121de.json"}}, {"family": "Spracklen", "given": "Cassandra N", "initials": "CN", "orcid": "0000-0003-3590-7182", "researcher": {"href": "https://publications.scilifelab.se/researcher/132c3af299ef430294d5d2091f135e90.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Tajuddin", "given": "Salman M", "initials": "SM", "orcid": "0000-0002-7919-8528", "researcher": {"href": "https://publications.scilifelab.se/researcher/609b3374c75b4f16b7d9272de4f2a2aa.json"}}, {"family": "Trompet", "given": "Stella", "initials": "S"}, {"family": "Turman", "given": "Constance", "initials": "C"}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications.scilifelab.se/researcher/7306319d42a640a483b937de588a17a4.json"}}, {"family": "Viberti", "given": "Clara", "initials": "C"}, {"family": "Wang", "given": "Lihua", "initials": "L"}, {"family": "Warren", "given": "Helen R", "initials": "HR"}, {"family": "Wootton", "given": "Robyn E", "initials": "RE"}, {"family": "Yanek", "given": "Lisa R", "initials": "LR", "orcid": "0000-0001-7117-1075", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ccbe54244ce407bb4361f52f02e3b59.json"}}, {"family": "Yao", "given": "Jie", "initials": "J"}, {"family": "Yousri", "given": "Noha A", "initials": "NA"}, {"family": "Zhao", "given": "Wei", "initials": "W", "orcid": "0000-0001-7388-0692", "researcher": {"href": "https://publications.scilifelab.se/researcher/a0c2246e69494086bab7ead8e6f1f717.json"}}, {"family": "Adeyemo", "given": "Adebowale A", "initials": "AA"}, {"family": "Afaq", "given": "Saima", "initials": "S"}, {"family": "Aguilar-Salinas", "given": "Carlos Alberto", "initials": "CA"}, {"family": "Akiyama", "given": "Masato", "initials": "M"}, {"family": "Albert", "given": "Matthew L", "initials": "ML", "orcid": "0000-0001-7285-6973", "researcher": {"href": "https://publications.scilifelab.se/researcher/0653a389768947abafecf0bd010afc6c.json"}}, {"family": "Allison", "given": "Matthew A", "initials": "MA"}, {"family": "Alver", "given": "Maris", "initials": "M"}, {"family": "Aung", 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"given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}, {"family": "Timpson", "given": "Nicholas J", "initials": "NJ", "orcid": "0000-0002-7141-9189", "researcher": {"href": "https://publications.scilifelab.se/researcher/764ab7a82db24557a5de0fad97bf53f3.json"}}, {"family": "Toniolo", "given": "Daniela", "initials": "D"}, {"family": "Tregouet", "given": "David-Alexandre", "initials": "DA"}, {"family": "Tuomi", "given": "Tiinamaija", "initials": "T", "orcid": "0000-0002-8306-6202", "researcher": {"href": "https://publications.scilifelab.se/researcher/19f5ce9936ca454c85f0af966acac5c0.json"}}, {"family": "Vollenweider", "given": "Peter", "initials": "P"}, {"family": "Wang", "given": "Carol A", "initials": "CA", "orcid": "0000-0002-4301-3974", "researcher": {"href": "https://publications.scilifelab.se/researcher/bf99a43c27034a68976e978b104a91d7.json"}}, {"family": "Weir", "given": "David R", "initials": "DR", "orcid": "0000-0002-1661-2402", "researcher": {"href": "https://publications.scilifelab.se/researcher/f90b7cfe829845fb8cbea9558a5c82a7.json"}}, {"family": "Whitfield", "given": "John B", "initials": "JB", "orcid": "0000-0002-1103-0876", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0f61a914f9748ee9047301da8026bd7.json"}}, {"family": "Wijmenga", "given": "Cisca", "initials": "C"}, {"family": "Wong", "given": "Tien-Yin", "initials": "TY"}, {"family": "Wright", "given": "John", "initials": "J"}, {"family": "Yang", "given": "Jingyun", "initials": "J"}, {"family": "Yu", "given": "Lei", "initials": "L"}, {"family": "Zemel", "given": "Babette S", "initials": "BS"}, {"family": "Zonderman", "given": "Alan B", "initials": "AB"}, {"family": "Perola", "given": "Markus", "initials": "M"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications.scilifelab.se/researcher/273577b238854023a9dffe34dabc3551.json"}}, {"family": "Kooner", "given": "Jaspal S", "initials": "JS"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications.scilifelab.se/researcher/e5b6c24c302d42828806076ded81afe1.json"}}, {"family": "Franceschini", "given": "Nora", "initials": "N"}, {"family": "Franke", "given": "Lude", "initials": "L", "orcid": "0000-0002-5159-8802", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee63161f78274a53b615c05555b81a10.json"}}, {"family": "Haley", "given": "Chris S", "initials": "CS", "orcid": "0000-0002-9811-0210", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4fee769cfe84186abbc285881e0529c.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Walters", "given": "Robin G", "initials": "RG", "orcid": "0000-0002-9179-0321", "researcher": {"href": "https://publications.scilifelab.se/researcher/f36254611faa44b782b76da870e89bd3.json"}}, {"family": "Perry", "given": "John R B", "initials": "JRB"}, {"family": "Esko", "given": "T\u014dnu", "initials": "T"}, {"family": "Helgason", "given": "Agnar", "initials": "A"}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications.scilifelab.se/researcher/46050ddec8f64054b3bab46c5016aebf.json"}}, {"family": "Kubo", "given": "Michiaki", "initials": "M"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications.scilifelab.se/researcher/b39e6e0f7210494cb4f80be0f7413b6f.json"}}], "type": "journal article", "published": "2019-10-31", "journal": {"volume": "10", "issn": "2041-1723", "issue": "1", "pages": "4957", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.", "doi": "10.1038/s41467-019-12283-6", "pmid": "31673082", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC6823371"}, {"db": "pii", "key": "10.1038/s41467-019-12283-6"}], "notes": [], "created": "2019-11-28T07:41:34.797Z", "modified": "2023-06-19T13:09:10.356Z"}, {"entity": "publication", "iuid": "cb37677921194ab3a4e0306fa262a79c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/cb37677921194ab3a4e0306fa262a79c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/cb37677921194ab3a4e0306fa262a79c"}}, "title": "Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.", "authors": [{"family": "Shungin", "given": "Dmitry", "initials": "D"}, {"family": "Haworth", "given": "Simon", "initials": "S", "orcid": "0000-0001-7793-7326", "researcher": {"href": "https://publications.scilifelab.se/researcher/43fa9fb331c849b58d4ac4b14f04fbda.json"}}, {"family": "Divaris", "given": "Kimon", "initials": "K", "orcid": "0000-0003-1290-7251", "researcher": {"href": "https://publications.scilifelab.se/researcher/faf6f5fd1c224f8e8733c944a62c6821.json"}}, {"family": "Agler", "given": "Cary S", "initials": "CS"}, {"family": "Kamatani", "given": "Yoichiro", "initials": "Y", "orcid": "0000-0001-8748-5597", "researcher": {"href": "https://publications.scilifelab.se/researcher/6cf00b09991c4b40bd77a4f2c5bfad97.json"}}, {"family": "Keun Lee", "given": "Myoung", "initials": "M"}, {"family": "Grinde", "given": "Kelsey", "initials": "K"}, {"family": "Hindy", "given": "George", "initials": "G"}, {"family": "Alaraudanjoki", "given": "Viivi", "initials": "V"}, {"family": "Pesonen", "given": "Paula", "initials": "P"}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}, {"family": "Holtfreter", "given": "Birte", "initials": "B"}, {"family": "Sakaue", "given": "Saori", "initials": "S", "orcid": "0000-0003-3618-9717", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b766fd8b9f54da4aee3275bc5864bc5.json"}}, {"family": "Hirata", "given": "Jun", "initials": "J"}, {"family": "Yu", "given": "Yau-Hua", "initials": "YH", "orcid": "0000-0002-4723-5064", "researcher": {"href": "https://publications.scilifelab.se/researcher/1721a03cdef84fbc848c40757d4d33cf.json"}}, {"family": "Ridker", "given": "Paul M", "initials": "PM"}, {"family": "Giulianini", "given": "Franco", "initials": "F"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "Sudo", "given": "Takeaki", "initials": "T"}, {"family": "Okada", "given": "Yukinori", "initials": "Y", "orcid": "0000-0002-0311-8472", "researcher": {"href": "https://publications.scilifelab.se/researcher/40b13860bfef41959c29be2de853b456.json"}}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U", "orcid": "0000-0002-5689-3448", "researcher": {"href": "https://publications.scilifelab.se/researcher/e529a40052644d83bdef588a3e4f4e99.json"}}, {"family": "Kocher", "given": "Thomas", "initials": "T", "orcid": "0000-0001-9605-2822", "researcher": {"href": "https://publications.scilifelab.se/researcher/eda3d0e849684448992e43011860b1ed.json"}}, {"family": "Anttonen", "given": "Vuokko", "initials": "V"}, {"family": "Laitala", "given": "Marja-Liisa", "initials": "ML", "orcid": "0000-0001-7323-9862", "researcher": {"href": "https://publications.scilifelab.se/researcher/a5a4749f0323465faa3ac823fc057f22.json"}}, {"family": "Orho-Melander", "given": "Marju", "initials": "M"}, {"family": "Sofer", "given": "Tamar", "initials": "T", "orcid": "0000-0001-8520-8860", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a07473be2d0489a83ba0180d19eef95.json"}}, {"family": "Shaffer", "given": "John R", "initials": "JR", "orcid": "0000-0003-1897-1131", "researcher": {"href": "https://publications.scilifelab.se/researcher/8bcd086471fe49d49534518327f66a50.json"}}, {"family": "Vieira", "given": "Alexandre", "initials": "A"}, {"family": "Marazita", "given": "Mary L", "initials": "ML"}, {"family": "Kubo", "given": "Michiaki", "initials": "M"}, {"family": "Furuichi", "given": "Yasushi", "initials": "Y"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Offenbacher", "given": "Steve", "initials": "S"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Franks", "given": "Paul W", "initials": "PW"}, {"family": "Timpson", "given": "Nicholas J", "initials": "NJ", "orcid": "0000-0002-7141-9189", "researcher": {"href": "https://publications.scilifelab.se/researcher/764ab7a82db24557a5de0fad97bf53f3.json"}}, {"family": "Johansson", "given": "Ingegerd", "initials": "I"}], "type": "journal article", "published": "2019-06-24", "journal": {"volume": "10", "issn": "2041-1723", "issue": "1", "pages": "2773", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "Dental caries and periodontitis account for a vast burden of morbidity and healthcare spending, yet their genetic basis remains largely uncharacterized. Here, we identify self-reported dental disease proxies which have similar underlying genetic contributions to clinical disease measures and then combine these in a genome-wide association study meta-analysis, identifying 47 novel and conditionally-independent risk loci for dental caries. We show that the heritability of dental caries is enriched for conserved genomic regions and partially overlapping with a range of complex traits including smoking, education, personality traits and metabolic measures. Using cardio-metabolic traits as an example in Mendelian randomization analysis, we estimate causal relationships and provide evidence suggesting that the processes contributing to dental caries may have undesirable downstream effects on health.", "doi": "10.1038/s41467-019-10630-1", "pmid": "31235808", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC6591304"}, {"db": "pii", "key": "10.1038/s41467-019-10630-1"}], "notes": [], "created": "2019-07-05T12:56:39.673Z", "modified": "2023-06-19T13:23:39.048Z"}, {"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": "https://publications.scilifelab.se/researcher/b9c33ed3b64348be904a14698402445e.json"}}, {"family": "Wang", "given": "Lihua", "initials": "L"}, {"family": "Chu", "given": "Audrey Y", "initials": "AY"}, {"family": "Hoppmann", "given": "Anselm", "initials": "A"}, {"family": "Kirsten", "given": "Holger", "initials": "H", "orcid": "0000-0002-3126-7950", "researcher": {"href": "https://publications.scilifelab.se/researcher/3e1081f5826147618bf52cd6b4d34ea3.json"}}, {"family": "Giri", "given": "Ayush", "initials": "A", "orcid": "0000-0002-7786-4670", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd1ca79434f64a18b3c48a670b773888.json"}}, {"family": "Chai", "given": "Jin-Fang", "initials": "JF"}, {"family": "Sveinbjornsson", "given": "Gardar", "initials": "G"}, {"family": "Tayo", "given": "Bamidele O", "initials": "BO"}, {"family": "Nutile", "given": "Teresa", "initials": "T"}, {"family": "Fuchsberger", "given": "Christian", "initials": "C"}, {"family": "Marten", "given": "Jonathan", "initials": "J", "orcid": "0000-0001-6916-2014", "researcher": {"href": "https://publications.scilifelab.se/researcher/2979ce9b8d824036aefead101633df34.json"}}, {"family": "Cocca", "given": "Massimiliano", "initials": "M", "orcid": "0000-0002-1127-7596", "researcher": {"href": "https://publications.scilifelab.se/researcher/86431d25a54645e3988674b5e0ef6a59.json"}}, {"family": "Ghasemi", "given": "Sahar", "initials": "S"}, {"family": "Xu", "given": "Yizhe", "initials": "Y"}, {"family": "Horn", "given": "Katrin", "initials": "K"}, {"family": "Noce", "given": "Damia", "initials": "D"}, {"family": "van der Most", "given": "Peter J", "initials": "PJ", "orcid": "0000-0001-8450-3518", "researcher": {"href": "https://publications.scilifelab.se/researcher/17cd11842111490ba5460f3093a366f3.json"}}, {"family": "Sedaghat", "given": "Sanaz", "initials": "S"}, {"family": "Yu", "given": "Zhi", "initials": "Z"}, {"family": "Akiyama", "given": "Masato", "initials": "M"}, {"family": "Afaq", "given": "Saima", "initials": "S"}, {"family": "Ahluwalia", "given": "Tarunveer S", "initials": "TS"}, {"family": "Almgren", "given": "Peter", "initials": "P", "orcid": "0000-0002-0473-0241", "researcher": {"href": "https://publications.scilifelab.se/researcher/8c1a61189c4846eaa1de74d1fd79c8bb.json"}}, {"family": "Amin", "given": "Najaf", "initials": "N"}, {"family": "\u00c4rnl\u00f6v", "given": "Johan", "initials": "J"}, {"family": "Bakker", "given": "Stephan J L", "initials": "SJL"}, {"family": "Bansal", "given": "Nisha", "initials": "N"}, {"family": "Baptista", "given": "Daniela", "initials": "D"}, {"family": "Bergmann", "given": "Sven", "initials": "S", "orcid": "0000-0002-6785-9034", "researcher": {"href": "https://publications.scilifelab.se/researcher/07785d6cc5af460ca1901fe3819808fa.json"}}, {"family": "Biggs", "given": "Mary L", "initials": "ML"}, {"family": "Biino", "given": "Ginevra", "initials": "G", "orcid": 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"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": "f86c0d25946743a0b41428c43f098abb", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f86c0d25946743a0b41428c43f098abb.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f86c0d25946743a0b41428c43f098abb"}}, "title": "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.", "authors": [{"family": "Malik", "given": "Rainer", "initials": 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"initials": ""}, {"family": "EPIC-CVD Consortium", "given": "", "initials": ""}, {"family": "EPIC-InterAct Consortium", "given": "", "initials": ""}, {"family": "International Stroke Genetics Consortium (ISGC)", "given": "", "initials": ""}, {"family": "METASTROKE Consortium", "given": "", "initials": ""}, {"family": "Neurology Working Group of the CHARGE Consortium", "given": "", "initials": ""}, {"family": "NINDS Stroke Genetics Network (SiGN)", "given": "", "initials": ""}, {"family": "UK Young Lacunar DNA Study", "given": "", "initials": ""}, {"family": "MEGASTROKE Consortium", "given": "", "initials": ""}, {"family": "Sanghera", "given": "Dharambir K", "initials": "DK"}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Jern", "given": "Christina", "initials": "C", "orcid": "0000-0002-7531-2354", "researcher": {"href": "https://publications.scilifelab.se/researcher/13e58d6c4a2e44cd9067f38a2ff2ea32.json"}}, {"family": "Strbian", "given": "Daniel", "initials": "D"}, {"family": "Fernandez-Cadenas", "given": "Israel", "initials": "I"}, {"family": "Longstreth", "given": "W T", "initials": "WT"}, {"family": "Rolfs", "given": "Arndt", "initials": "A"}, {"family": "Hata", "given": "Jun", "initials": "J"}, {"family": "Woo", "given": "Daniel", "initials": "D"}, {"family": "Rosand", "given": "Jonathan", "initials": "J"}, {"family": "Pare", "given": "Guillaume", "initials": "G"}, {"family": "Hopewell", "given": "Jemma C", "initials": "JC"}, {"family": "Saleheen", "given": "Danish", "initials": "D", "orcid": "0000-0001-6193-020X", "researcher": {"href": "https://publications.scilifelab.se/researcher/bbd250d7c853482084f2e8e221341790.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Worrall", "given": "Bradford B", "initials": "BB"}, {"family": "Kittner", "given": "Steven J", "initials": "SJ"}, {"family": "Seshadri", "given": "Sudha", "initials": "S"}, {"family": "Fornage", "given": "Myriam", "initials": "M"}, {"family": "Markus", "given": "Hugh S", "initials": "HS"}, {"family": "Howson", "given": "Joanna M M", "initials": "JMM"}, {"family": "Kamatani", "given": "Yoichiro", "initials": "Y", "orcid": "0000-0001-8748-5597", "researcher": {"href": "https://publications.scilifelab.se/researcher/6cf00b09991c4b40bd77a4f2c5bfad97.json"}}, {"family": "Debette", "given": "Stephanie", "initials": "S"}, {"family": "Dichgans", "given": "Martin", "initials": "M", "orcid": "0000-0002-0654-387X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f41f224e973440f6a78a49b54ca35e3a.json"}}], "type": "journal article", "published": "2018-04-00", "journal": {"volume": "50", "issn": "1546-1718", "issue": "4", "pages": "524-537", "title": "Nat. Genet.", "issn-l": "1061-4036"}, "abstract": "Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32. We further found shared genetic variation with related vascular traits, including blood pressure, cardiac traits, and venous thromboembolism, at individual loci (n = 18), and using genetic risk scores and linkage-disequilibrium-score regression. Several loci exhibited distinct association and pleiotropy patterns for etiological stroke subtypes. Eleven new susceptibility loci indicate mechanisms not previously implicated in stroke pathophysiology, with prioritization of risk variants and genes accomplished through bioinformatics analyses using extensive functional datasets. Stroke risk loci were significantly enriched in drug targets for antithrombotic therapy.", "doi": "10.1038/s41588-018-0058-3", "pmid": "29531354", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS959658"}, {"db": "pmc", "key": "PMC5968830"}, {"db": "pii", "key": "10.1038/s41588-018-0058-3"}], "notes": [], "created": "2018-05-25T13:25:52.583Z", "modified": "2024-01-16T13:48:46.589Z"}]}