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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": "08350a98d5d042829c1d154c715361d9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/08350a98d5d042829c1d154c715361d9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/08350a98d5d042829c1d154c715361d9"}}, "title": "Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus.", "authors": [{"family": "Tin", "given": "Adrienne", "initials": "A", "orcid": "0000-0002-4207-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/b9c33ed3b64348be904a14698402445e.json"}}, {"family": "Schlosser", "given": "Pascal", "initials": "P", "orcid": "0000-0002-8460-0462", "researcher": {"href": "https://publications.scilifelab.se/researcher/b69be66d160c4cdc8030a07ebcb8f150.json"}}, {"family": "Matias-Garcia", "given": "Pamela R", "initials": "PR"}, {"family": "Thio", "given": "Chris H L", "initials": "CHL", "orcid": "0000-0003-2623-7172", "researcher": {"href": "https://publications.scilifelab.se/researcher/47fba5312ce6449fb9cfc45f6e1717e1.json"}}, {"family": "Joehanes", "given": "Roby", "initials": "R"}, {"family": "Liu", "given": "Hongbo", "initials": "H", "orcid": "0000-0002-0733-8616", "researcher": {"href": "https://publications.scilifelab.se/researcher/ed1bef0b625f42249a5f5364e3759e71.json"}}, {"family": "Yu", "given": "Zhi", "initials": "Z", "orcid": "0000-0003-4810-3474", "researcher": {"href": 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"initials": "S"}, {"family": "Smith", "given": "Jennifer A", "initials": "JA", "orcid": "0000-0002-3575-5468", "researcher": {"href": "https://publications.scilifelab.se/researcher/311c7381092b4143bcd2e4ef93250526.json"}}, {"family": "Sotoodehnia", "given": "Nona", "initials": "N"}, {"family": "Stocker", "given": "Hannah R", "initials": "HR", "orcid": "0000-0001-5281-2455", "researcher": {"href": "https://publications.scilifelab.se/researcher/1b29536e37004e708b1c75abc369d1f2.json"}}, {"family": "Stringhini", "given": "Silvia", "initials": "S", "orcid": "0000-0002-4387-8943", "researcher": {"href": "https://publications.scilifelab.se/researcher/e670989692024cc581612a876237d6a7.json"}}, {"family": "Sundstr\u00f6m", "given": "Johan", "initials": "J", "orcid": "0000-0003-2247-8454", "researcher": {"href": "https://publications.scilifelab.se/researcher/91a40d3c138d43f2b0d38f66be4b71c7.json"}}, {"family": "Swenson", "given": "Brenton R", "initials": "BR"}, {"family": "van Meurs", "given": "Joyce B J", "initials": "JBJ"}, {"family": "van Vliet-Ostaptchouk", "given": "Jana V", "initials": "JV", "orcid": "0000-0002-7943-3153", "researcher": {"href": "https://publications.scilifelab.se/researcher/babcbf8d8f124eceaf0a06dffd39b5cb.json"}}, {"family": "Venema", "given": "Andrea", "initials": "A"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U", "orcid": "0000-0002-5689-3448", "researcher": {"href": "https://publications.scilifelab.se/researcher/e529a40052644d83bdef588a3e4f4e99.json"}}, {"family": "Winkelmann", "given": "Juliane", "initials": "J"}, {"family": "Wolffenbuttel", "given": "Bruce H R", "initials": "BHR", "orcid": "0000-0001-9262-6921", "researcher": {"href": "https://publications.scilifelab.se/researcher/705d5bb109c443289feef937e695dc7d.json"}}, {"family": "Zhao", "given": "Wei", "initials": "W", "orcid": "0000-0001-7388-0692", "researcher": {"href": "https://publications.scilifelab.se/researcher/a0c2246e69494086bab7ead8e6f1f717.json"}}, {"family": "Zheng", "given": "Yinan", "initials": "Y", "orcid": "0000-0002-2006-7320", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd8f1e7f80ee4aa8b853ef31295f5709.json"}}, {"family": "Estonian Biobank Research Team", "given": "", "initials": ""}, {"family": "Genetics of DNA Methylation Consortium", "given": "", "initials": ""}, {"family": "Loh", "given": "Marie", "initials": "M", "orcid": "0000-0003-3626-8466", "researcher": {"href": "https://publications.scilifelab.se/researcher/70e1d986dce444f889fda8d47e9cb355.json"}}, {"family": "Snieder", "given": "Harold", "initials": "H", "orcid": "0000-0003-1949-2298", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9276827839a4f3cb50dcaa2ad4708a5.json"}}, {"family": "Waldenberger", "given": "Melanie", "initials": "M", "orcid": "0000-0003-0583-5093", "researcher": {"href": "https://publications.scilifelab.se/researcher/c8de22214f2448c6a7f86fc1040d0104.json"}}, {"family": "Levy", "given": "Daniel", "initials": "D", "orcid": "0000-0003-1843-8724", "researcher": {"href": "https://publications.scilifelab.se/researcher/86bfd3e65ead428c93dc1a461004adab.json"}}, {"family": "Akilesh", "given": "Shreeram", "initials": "S", "orcid": "0000-0003-3152-7991", "researcher": {"href": "https://publications.scilifelab.se/researcher/1cb143e90633471486dbad753d06e3fe.json"}}, {"family": "Woodward", "given": "Owen M", "initials": "OM", "orcid": "0000-0001-9514-2180", "researcher": {"href": "https://publications.scilifelab.se/researcher/669278c697764d249d6668a7d59269a6.json"}}, {"family": "Susztak", "given": "Katalin", "initials": "K", "orcid": "0000-0002-1005-3726", "researcher": {"href": "https://publications.scilifelab.se/researcher/1382eacb5f28444396132254487e3ed9.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"}}], "type": "journal article", "published": "2021-12-09", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "12", "issue": "1", "pages": "7173", "issn-l": "2041-1723"}, "abstract": "Elevated serum urate levels, a complex trait and major risk factor for incident gout, are correlated with cardiometabolic traits via incompletely understood mechanisms. DNA methylation in whole blood captures genetic and environmental influences and is assessed in transethnic meta-analysis of epigenome-wide association studies (EWAS) of serum urate (discovery, n = 12,474, replication, n = 5522). The 100 replicated, epigenome-wide significant (p < 1.1E-7) CpGs explain 11.6% of the serum urate variance. At SLC2A9, the serum urate locus with the largest effect in genome-wide association studies (GWAS), five CpGs are associated with SLC2A9 gene expression. Four CpGs at SLC2A9 have significant causal effects on serum urate levels and/or gout, and two of these partly mediate the effects of urate-associated GWAS variants. In other genes, including SLC7A11 and PHGDH, 17 urate-associated CpGs are associated with conditions defining metabolic syndrome, suggesting that these CpGs may represent a blood DNA methylation signature of cardiometabolic risk factors. This study demonstrates that EWAS can provide new insights into GWAS loci and the correlation of serum urate with other complex traits.", "doi": "10.1038/s41467-021-27198-4", "pmid": "34887389", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-021-27198-4"}], "notes": [], "created": "2021-12-22T19:39:57.979Z", "modified": "2021-12-22T19:39:58.563Z"}, {"entity": "publication", "iuid": "c6fcde1c149146be8ea0b5308f8ec628", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c6fcde1c149146be8ea0b5308f8ec628.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c6fcde1c149146be8ea0b5308f8ec628"}}, "title": "Meta-analyses identify DNA methylation associated with kidney function and damage.", "authors": [{"family": "Schlosser", "given": "Pascal", "initials": "P", "orcid": "0000-0002-8460-0462", "researcher": {"href": 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"Niek", "initials": "N"}, {"family": "Walker", "given": "Rosie M", "initials": "RM", "orcid": "0000-0002-1060-4479", "researcher": {"href": "https://publications.scilifelab.se/researcher/79a65025d1a64ed2b383e69c803df0a4.json"}}, {"family": "Wielscher", "given": "Matthias", "initials": "M", "orcid": "0000-0003-4138-1383", "researcher": {"href": "https://publications.scilifelab.se/researcher/18bdf16f6b9f4272ae4b03579dc46e00.json"}}, {"family": "Winkelmann", "given": "Juliane", "initials": "J"}, {"family": "Wolffenbuttel", "given": "Bruce H R", "initials": "BHR", "orcid": "0000-0001-9262-6921", "researcher": {"href": "https://publications.scilifelab.se/researcher/705d5bb109c443289feef937e695dc7d.json"}}, {"family": "Zhao", "given": "Wei", "initials": "W", "orcid": "0000-0001-7388-0692", "researcher": {"href": "https://publications.scilifelab.se/researcher/a0c2246e69494086bab7ead8e6f1f717.json"}}, {"family": "Zheng", "given": "Yinan", "initials": "Y", "orcid": "0000-0002-2006-7320", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd8f1e7f80ee4aa8b853ef31295f5709.json"}}, {"family": "Estonian Biobank Research Team", "given": "", "initials": ""}, {"family": "Genetics of DNA Methylation Consortium", "given": "", "initials": ""}, {"family": "Loh", "given": "Marie", "initials": "M", "orcid": "0000-0003-3626-8466", "researcher": {"href": "https://publications.scilifelab.se/researcher/70e1d986dce444f889fda8d47e9cb355.json"}}, {"family": "Snieder", "given": "Harold", "initials": "H", "orcid": "0000-0003-1949-2298", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9276827839a4f3cb50dcaa2ad4708a5.json"}}, {"family": "Levy", "given": "Daniel", "initials": "D", "orcid": "0000-0003-1843-8724", "researcher": {"href": "https://publications.scilifelab.se/researcher/86bfd3e65ead428c93dc1a461004adab.json"}}, {"family": "Waldenberger", "given": "Melanie", "initials": "M", "orcid": "0000-0003-0583-5093", "researcher": {"href": "https://publications.scilifelab.se/researcher/c8de22214f2448c6a7f86fc1040d0104.json"}}, {"family": "Susztak", "given": "Katalin", "initials": "K", "orcid": "0000-0002-1005-3726", "researcher": {"href": "https://publications.scilifelab.se/researcher/1382eacb5f28444396132254487e3ed9.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4cb85a14da4db6bc932a8bc4148efb.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}], "type": "journal article", "published": "2021-12-09", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "12", "issue": "1", "pages": "7174", "issn-l": "2041-1723"}, "abstract": "Chronic kidney disease is a major public health burden. Elevated urinary albumin-to-creatinine ratio is a measure of kidney damage, and used to diagnose and stage chronic kidney disease. To extend the knowledge on regulatory mechanisms related to kidney function and disease, we conducted a blood-based epigenome-wide association study for estimated glomerular filtration rate (n = 33,605) and urinary albumin-to-creatinine ratio (n = 15,068) and detected 69 and seven CpG sites where DNA methylation was associated with the respective trait. The majority of these findings showed directionally consistent associations with the respective clinical outcomes chronic kidney disease and moderately increased albuminuria. Associations of DNA methylation with kidney function, such as CpGs at JAZF1, PELI1 and CHD2 were validated in kidney tissue. Methylation at PHRF1, LDB2, CSRNP1 and IRF5 indicated causal effects on kidney function. Enrichment analyses revealed pathways related to hemostasis and blood cell migration for estimated glomerular filtration rate, and immune cell activation and response for urinary albumin-to-creatinineratio-associated CpGs.", "doi": "10.1038/s41467-021-27234-3", "pmid": "34887417", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-021-27234-3"}], "notes": [], "created": "2021-12-22T19:39:46.207Z", "modified": "2021-12-22T19:39:47.563Z"}, {"entity": "publication", "iuid": "0f41cddd0a724aad8eebbd2eee4e75e2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/0f41cddd0a724aad8eebbd2eee4e75e2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/0f41cddd0a724aad8eebbd2eee4e75e2"}}, "title": "A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.", "authors": [{"family": "Jhun", "given": "Min-A", "initials": "M"}, {"family": "Mendelson", "given": "Michael", "initials": "M", "orcid": "0000-0001-7590-3958", "researcher": {"href": "https://publications.scilifelab.se/researcher/d30230bbef094ca6831089c8e4afc846.json"}}, {"family": "Wilson", "given": "Rory", "initials": "R", "orcid": "0000-0001-6135-3764", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c107a0ec79f4672b6ec73ff4273c338.json"}}, {"family": "Gondalia", "given": "Rahul", "initials": "R"}, {"family": "Joehanes", "given": "Roby", "initials": "R", "orcid": "0000-0001-5549-9054", "researcher": {"href": "https://publications.scilifelab.se/researcher/28dc0f841c0148c59291a83c4ffe1a78.json"}}, {"family": "Salfati", "given": "Elias", "initials": "E"}, {"family": "Zhao", "given": "Xiaoping", "initials": "X"}, {"family": "Braun", "given": "Kim Valeska Emilie", "initials": "KVE", "orcid": "0000-0001-8738-4139", "researcher": {"href": "https://publications.scilifelab.se/researcher/b0966cb600ed4c749be09388bb798d8d.json"}}, {"family": "Do", "given": "Anh Nguyet", "initials": "AN"}, {"family": "Hedman", "given": "\u00c5sa K", "initials": "\u00c5K", "orcid": "0000-0001-5413-204X", "researcher": {"href": "https://publications.scilifelab.se/researcher/2b9eaa6a5dfc4ecf8bf82ece793cd457.json"}}, {"family": "Zhang", "given": "Tao", "initials": "T"}, {"family": "Carnero-Montoro", "given": "Elena", "initials": "E", "orcid": "0000-0002-1947-9627", "researcher": {"href": "https://publications.scilifelab.se/researcher/87403846db104d3c9e4283dd00065da3.json"}}, {"family": "Shen", "given": "Jincheng", "initials": "J"}, {"family": "Bartz", "given": "Traci M", "initials": "TM"}, {"family": "Brody", "given": "Jennifer A", "initials": "JA", "orcid": "0000-0001-8509-148X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e137fc0192e4fa295a88589d57e3498.json"}}, {"family": "Montasser", "given": "May E", "initials": "ME"}, {"family": "O'Connell", "given": "Jeff R", "initials": "JR"}, {"family": "Yao", "given": "Chen", "initials": "C", "orcid": "0000-0002-3944-7788", "researcher": {"href": "https://publications.scilifelab.se/researcher/8d1a3603e21e4d52a4648eef4b86d3f8.json"}}, {"family": "Xia", "given": "Rui", "initials": "R"}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Grove", "given": "Megan", "initials": "M"}, {"family": "Guan", "given": "Weihua", "initials": "W"}, {"family": "Liliane", "given": "Pfeiffer", "initials": "P"}, {"family": "Singmann", "given": "Paula", "initials": "P", "orcid": "0000-0003-2109-9970", "researcher": {"href": "https://publications.scilifelab.se/researcher/db716a10b55f4e57af04c01c5e8007d7.json"}}, {"family": "M\u00fcller-Nurasyid", "given": "Martina", "initials": "M", "orcid": "0000-0003-3793-5910", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d21299bb41343f88142255e64a9da57.json"}}, {"family": "Meitinger", "given": "Thomas", "initials": "T"}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Peters", "given": "Annette", "initials": "A", "orcid": "0000-0001-6645-0985", "researcher": {"href": "https://publications.scilifelab.se/researcher/05465e52a0f6412e81752d2249af30de.json"}}, {"family": "Zhao", "given": "Wei", "initials": "W", "orcid": "0000-0001-7388-0692", "researcher": {"href": "https://publications.scilifelab.se/researcher/a0c2246e69494086bab7ead8e6f1f717.json"}}, {"family": "Ware", "given": "Erin B", "initials": "EB", "orcid": "0000-0003-4731-8158", "researcher": {"href": "https://publications.scilifelab.se/researcher/675e10a2b27a4f4b9de0ee766c4907dc.json"}}, {"family": "Smith", "given": "Jennifer A", "initials": "JA", "orcid": "0000-0002-3575-5468", "researcher": {"href": "https://publications.scilifelab.se/researcher/311c7381092b4143bcd2e4ef93250526.json"}}, {"family": "Dhana", "given": "Klodian", "initials": "K"}, {"family": "van Meurs", "given": "Joyce", "initials": "J"}, {"family": "Uitterlinden", "given": "Andre", "initials": "A", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications.scilifelab.se/researcher/273577b238854023a9dffe34dabc3551.json"}}, {"family": "Ikram", "given": "Mohammad Arfan", "initials": "MA", "orcid": "0000-0003-0372-8585", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ec81571f4a94af682b4e23526f87385.json"}}, {"family": "Ghanbari", "given": "Mohsen", "initials": "M", "orcid": "0000-0002-9476-7143", "researcher": {"href": "https://publications.scilifelab.se/researcher/52ef9606de1144c994e0e854c5a85569.json"}}, {"family": "Zhi", "given": "Deugi", "initials": "D"}, {"family": "Gustafsson", "given": "Stefan", "initials": "S", "orcid": "0000-0001-5894-0351", "researcher": {"href": "https://publications.scilifelab.se/researcher/9a0552f8a6514baa9bdb6809148aaddc.json"}}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Li", "given": "Shengxu", "initials": "S"}, {"family": "Sun", "given": "Dianjianyi", "initials": "D"}, {"family": "Spector", "given": "Tim D", "initials": "TD", "orcid": "0000-0002-9795-0365", "researcher": {"href": "https://publications.scilifelab.se/researcher/9b3b149961364ccbb448a8cc3cdd6687.json"}}, {"family": "Chen", "given": "Yii-der Ida", "initials": "YI"}, {"family": "Damcott", "given": "Coleen", "initials": "C", "orcid": "0000-0001-6233-7395", "researcher": {"href": "https://publications.scilifelab.se/researcher/234acf5657cd4ede95641ee045cb23cd.json"}}, {"family": "Shuldiner", "given": "Alan R", "initials": "AR"}, {"family": "Absher", "given": "Devin M", "initials": "DM"}, {"family": "Horvath", "given": "Steve", "initials": "S", "orcid": "0000-0002-4110-3589", "researcher": {"href": "https://publications.scilifelab.se/researcher/d9fd917cfb8e43329e4dadb4e14e32ef.json"}}, {"family": "Tsao", "given": "Philip S", "initials": "PS", "orcid": "0000-0001-7274-9318", "researcher": {"href": "https://publications.scilifelab.se/researcher/1520706d352e454688b0a737b5d590ef.json"}}, {"family": "Kardia", "given": "Sharon", "initials": "S"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Sotoodehnia", "given": "Nona", "initials": "N"}, {"family": "Bell", "given": "Jordana T", "initials": "JT", "orcid": "0000-0002-3858-5986", "researcher": {"href": "https://publications.scilifelab.se/researcher/078c46640d7946ed9ed4e08e9f9a71fa.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Chen", "given": "Wei", "initials": "W", "orcid": "0000-0003-1566-7943", "researcher": {"href": "https://publications.scilifelab.se/researcher/905609ccc3704af9afccd0b9ab0553bf.json"}}, {"family": "Dehghan", "given": "Abbas", "initials": "A"}, {"family": "Arnett", "given": "Donna K", "initials": "DK", "orcid": "0000-0003-2219-657X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e1d283344e5c4e7daf4ff1a3709ba492.json"}}, {"family": "Waldenberger", "given": "Melanie", "initials": "M", "orcid": "0000-0003-0583-5093", "researcher": {"href": "https://publications.scilifelab.se/researcher/c8de22214f2448c6a7f86fc1040d0104.json"}}, {"family": "Hou", "given": "Lifang", "initials": "L"}, {"family": "Whitsel", "given": "Eric A", "initials": "EA"}, {"family": "Baccarelli", "given": "Andrea", "initials": "A"}, {"family": "Levy", "given": "Daniel", "initials": "D"}, {"family": "Fornage", "given": "Myriam", "initials": "M", "orcid": "0000-0003-0677-8158", "researcher": {"href": "https://publications.scilifelab.se/researcher/b5de431c325e40f4adfe13c06cf1e0b9.json"}}, {"family": "Irvin", "given": "Marguerite R", "initials": "MR"}, {"family": "Assimes", "given": "Themistocles L", "initials": "TL", "orcid": "0000-0003-2349-0009", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e155ca3dd01486580be888d1ded405c.json"}}], "type": "journal article", "published": "2021-06-28", "journal": {"title": "Nat Commun", "issn": "2041-1723", "issn-l": "2041-1723", "volume": "12", "issue": "1", "pages": "3987"}, "abstract": "Here we examine the association between DNA methylation in circulating leukocytes and blood lipids in a multi-ethnic sample of 16,265 subjects. We identify 148, 35, and 4 novel associations among Europeans, African Americans, and Hispanics, respectively, and an additional 186 novel associations through a trans-ethnic meta-analysis. We observe a high concordance in the direction of effects across racial/ethnic groups, a high correlation of effect sizes between high-density lipoprotein and triglycerides, a modest overlap of associations with epigenome-wide association studies of other cardio-metabolic traits, and a largely non-overlap with lipid loci identified to date through genome-wide association studies. Thirty CpGs reached significance in at least 2 racial/ethnic groups including 7 that showed association with the expression of an annotated gene. CpGs annotated to CPT1A showed evidence of being influenced by triglycerides levels. DNA methylation levels of circulating leukocytes show robust and consistent association with blood lipid levels across multiple racial/ethnic groups.", "doi": "10.1038/s41467-021-23899-y", "pmid": "34183656", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-021-23899-y"}, {"db": "pmc", "key": "PMC8238961"}, {"db": "Dryad", "key": "10.5061/dryad.qfttdz0d8"}], "notes": [], "created": "2021-08-19T13:41:35.464Z", "modified": "2021-12-07T13:25:44.149Z"}, {"entity": "publication", "iuid": "7ece5c90f5a84512a7eef65aed76aed2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7ece5c90f5a84512a7eef65aed76aed2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7ece5c90f5a84512a7eef65aed76aed2"}}, "title": "Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.", "authors": [{"family": "Shah", "given": "Sonia", "initials": "S", "orcid": "0000-0001-5860-4526", "researcher": {"href": "https://publications.scilifelab.se/researcher/c6a8568b3cae476199b27818eeb19e4d.json"}}, {"family": "Henry", "given": "Albert", "initials": "A", "orcid": "0000-0001-7422-2288", "researcher": {"href": "https://publications.scilifelab.se/researcher/9b1557b87fc542eb8e4d7b733e5b79dc.json"}}, {"family": "Roselli", "given": "Carolina", "initials": "C", "orcid": "0000-0001-5267-6756", "researcher": {"href": "https://publications.scilifelab.se/researcher/1dd28aad250f42719d505c21ed76013b.json"}}, {"family": "Lin", "given": "Honghuang", "initials": "H", "orcid": "0000-0003-3043-3942", "researcher": {"href": "https://publications.scilifelab.se/researcher/9bc2f1e6bb1140dfa054376eac685d5e.json"}}, {"family": "Sveinbj\u00f6rnsson", "given": "Gar\u00f0ar", "initials": "G"}, {"family": "Fatemifar", "given": "Ghazaleh", "initials": "G"}, {"family": "Hedman", "given": "\u00c5sa K", "initials": "\u00c5K"}, {"family": "Wilk", "given": "Jemma B", "initials": "JB"}, {"family": "Morley", "given": "Michael P", "initials": "MP"}, {"family": "Chaffin", "given": "Mark D", "initials": "MD", "orcid": "0000-0002-1234-5562", "researcher": {"href": "https://publications.scilifelab.se/researcher/c73477de5ca0468ab051fd6eab7bad81.json"}}, {"family": "Helgadottir", "given": "Anna", "initials": "A", "orcid": "0000-0002-1806-2467", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b5de2b760674dbfba05df40af0eb38f.json"}}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications.scilifelab.se/researcher/7306319d42a640a483b937de588a17a4.json"}}, {"family": "Dehghan", "given": "Abbas", "initials": "A"}, {"family": "Almgren", "given": "Peter", "initials": "P", "orcid": "0000-0002-0473-0241", "researcher": {"href": "https://publications.scilifelab.se/researcher/8c1a61189c4846eaa1de74d1fd79c8bb.json"}}, {"family": "Andersson", "given": "Charlotte", "initials": "C"}, {"family": "Aragam", "given": "Krishna G", "initials": "KG"}, {"family": "\u00c4rnl\u00f6v", "given": "Johan", "initials": "J"}, {"family": "Backman", "given": "Joshua D", "initials": "JD"}, {"family": "Biggs", "given": "Mary L", "initials": "ML"}, {"family": "Bloom", "given": "Heather L", "initials": "HL"}, {"family": "Brandimarto", "given": "Jeffrey", "initials": "J"}, {"family": "Brown", "given": "Michael R", "initials": "MR"}, {"family": "Buckbinder", "given": "Leonard", "initials": "L"}, {"family": "Carey", "given": "David J", "initials": "DJ"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Chen", "given": "Xing", "initials": "X", "orcid": "0000-0002-7299-3238", "researcher": {"href": "https://publications.scilifelab.se/researcher/9d354d5ca83c4059b8151c8e67b99405.json"}}, {"family": "Chen", "given": "Xu", "initials": "X", "orcid": "0000-0002-7299-3238", "researcher": {"href": "https://publications.scilifelab.se/researcher/9d354d5ca83c4059b8151c8e67b99405.json"}}, {"family": "Chung", "given": "Jonathan", "initials": "J"}, {"family": "Chutkow", "given": "William", "initials": "W"}, {"family": "Cook", "given": "James P", "initials": "JP"}, {"family": "Delgado", "given": "Graciela E", "initials": "GE"}, {"family": "Denaxas", "given": "Spiros", "initials": "S"}, {"family": "Doney", "given": "Alexander S", "initials": "AS"}, {"family": "D\u00f6rr", "given": "Marcus", "initials": "M"}, {"family": "Dudley", "given": "Samuel C", "initials": "SC"}, {"family": "Dunn", "given": "Michael E", "initials": "ME"}, {"family": "Engstr\u00f6m", "given": "Gunnar", "initials": "G"}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T"}, {"family": "Felix", "given": "Stephan B", "initials": "SB"}, {"family": "Finan", "given": "Chris", "initials": "C"}, {"family": "Ford", "given": "Ian", "initials": "I"}, {"family": "Ghanbari", "given": "Mohsen", "initials": "M", "orcid": "0000-0002-9476-7143", "researcher": {"href": "https://publications.scilifelab.se/researcher/52ef9606de1144c994e0e854c5a85569.json"}}, {"family": "Ghasemi", "given": "Sahar", "initials": "S"}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V", "orcid": "0000-0003-3423-2021", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c95879213664e00b66aeee2e8ece975.json"}}, {"family": "Giulianini", "given": "Franco", "initials": "F"}, {"family": "Gottdiener", "given": "John S", "initials": "JS"}, {"family": "Gross", "given": "Stefan", "initials": "S", "orcid": "0000-0003-4121-7161", "researcher": {"href": "https://publications.scilifelab.se/researcher/fde6335a99264403a7f4d01ae7195ebe.json"}}, {"family": "Gu\u00f0bjartsson", "given": "Dan\u00edel F", "initials": "DF", "orcid": "0000-0002-5222-9857", "researcher": {"href": "https://publications.scilifelab.se/researcher/e41ffdc303534408aade6e4a071e4801.json"}}, {"family": "Gutmann", "given": "Rebecca", "initials": "R"}, {"family": "Haggerty", "given": "Christopher M", "initials": "CM"}, {"family": "van der Harst", "given": "Pim", "initials": "P"}, {"family": "Hyde", "given": "Craig L", "initials": "CL", "orcid": "0000-0002-6939-287X", "researcher": {"href": "https://publications.scilifelab.se/researcher/587e7b89272548abbc9eab014c66a21e.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E", "orcid": "0000-0003-2256-6972", "researcher": {"href": "https://publications.scilifelab.se/researcher/689bc741ea6547d18de7080c84d0193e.json"}}, {"family": "Jukema", "given": "J Wouter", "initials": "JW", "orcid": "0000-0002-3246-8359", "researcher": {"href": "https://publications.scilifelab.se/researcher/0479b794031d4df7bed96340b3470c19.json"}}, {"family": "Kavousi", "given": "Maryam", "initials": "M"}, {"family": "Khaw", "given": "Kay-Tee", "initials": "KT"}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": "0000-0003-0663-7275", "researcher": {"href": "https://publications.scilifelab.se/researcher/a51175112cfb4721b8c9fbfdc71c4307.json"}}, {"family": "K\u00f8ber", "given": "Lars", "initials": "L"}, {"family": "Koekemoer", "given": "Andrea", "initials": "A", "orcid": "0000-0001-8222-3547", "researcher": {"href": "https://publications.scilifelab.se/researcher/74525ced82a7490d939b480e07fadfdd.json"}}, {"family": "Langenberg", "given": "Claudia", "initials": "C", "orcid": "0000-0002-5017-7344", "researcher": {"href": "https://publications.scilifelab.se/researcher/ca19370bb4d6437aa9df3905db9d3dd2.json"}}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM", "orcid": "0000-0002-4903-9374", "researcher": {"href": "https://publications.scilifelab.se/researcher/822d2f2a99814a7498f19976ed6381ef.json"}}, {"family": "London", "given": "Barry", "initials": "B"}, {"family": "Lotta", "given": "Luca A", "initials": "LA"}, {"family": "Lovering", "given": "Ruth C", "initials": "RC", 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{"family": "Holmes", "given": "Michael V", "initials": "MV"}, {"family": "Cappola", "given": "Thomas P", "initials": "TP", "orcid": "0000-0002-9630-7204", "researcher": {"href": "https://publications.scilifelab.se/researcher/6cc50d241ad14477b91f83e012918181.json"}}, {"family": "Asselbergs", "given": "Folkert W", "initials": "FW", "orcid": "0000-0002-1692-8669", "researcher": {"href": "https://publications.scilifelab.se/researcher/7037429ef1304bdaabd837d242b1e6f5.json"}}, {"family": "Hingorani", "given": "Aroon D", "initials": "AD"}, {"family": "Kuchenbaecker", "given": "Karoline", "initials": "K", "orcid": "0000-0001-9726-603X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4e142157c79648ce96b258ea78019829.json"}}, {"family": "Ellinor", "given": "Patrick T", "initials": "PT", "orcid": "0000-0002-2067-0533", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd513dc49e0945bc8298f72d1244648d.json"}}, {"family": "Lang", "given": "Chim C", "initials": "CC"}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Smith", "given": "J Gustav", "initials": "JG"}, {"family": "Vasan", "given": "Ramachandran S", "initials": "RS", "orcid": "0000-0001-7357-5970", "researcher": {"href": "https://publications.scilifelab.se/researcher/50ceef6f00ea4251a5e1e83cd379a506.json"}}, {"family": "Swerdlow", "given": "Daniel I", "initials": "DI"}, {"family": "Lumbers", "given": "R Thomas", "initials": "RT", "orcid": "0000-0002-9077-4741", "researcher": {"href": "https://publications.scilifelab.se/researcher/a53e4d6591db481f881ec6046d54535b.json"}}], "type": "journal article", "published": "2020-01-09", "journal": {"volume": "11", "issn": "2041-1723", "issue": "1", "pages": "163", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.", "doi": "10.1038/s41467-019-13690-5", "pmid": "31919418", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC6952380"}, {"db": "pii", "key": "10.1038/s41467-019-13690-5"}], "notes": [], "created": "2020-01-14T10:04:57.921Z", "modified": "2023-06-19T13:01:57.741Z"}, {"entity": "publication", "iuid": "7a40ff4fb7e14b518f09678e19c9c8e1", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7a40ff4fb7e14b518f09678e19c9c8e1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7a40ff4fb7e14b518f09678e19c9c8e1"}}, "title": "Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.", "authors": [{"family": "Bentley", "given": "Amy R", "initials": "AR", "orcid": 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"initials": "TN"}, {"family": "Fox", "given": "Ervin R", "initials": "ER"}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Tai", "given": "E Shyong", "initials": "ES"}, {"family": "Wong", "given": "Tien Yin", "initials": "TY"}, {"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": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Zhu", "given": "Xiaofeng", "initials": "X"}, {"family": "Bierut", "given": "Laura J", "initials": "LJ"}, {"family": "Gauderman", "given": "W James", "initials": "WJ"}, {"family": "Rice", "given": "Kenneth", "initials": "K", "orcid": "0000-0002-3071-7278", "researcher": {"href": "https://publications.scilifelab.se/researcher/5affb61f3ef141e8a6e7c7bfd2477ae3.json"}}, {"family": "Munroe", "given": "Patricia B", "initials": "PB", "orcid": "0000-0002-4176-2947", "researcher": {"href": "https://publications.scilifelab.se/researcher/657544a7f921459f926aae5cd0e2065c.json"}}, {"family": "Morrison", "given": "Alanna C", "initials": "AC"}, {"family": "Rao", "given": "Dabeeru C", "initials": "DC"}, {"family": "Rotimi", "given": "Charles N", "initials": "CN", "orcid": "0000-0001-5759-053X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7fa2951fdebf4fddaad296d49b8f3f2b.json"}}, {"family": "Cupples", "given": "L Adrienne", "initials": "LA", "orcid": "0000-0003-0273-7965", "researcher": {"href": "https://publications.scilifelab.se/researcher/b931b673086a471e9fd17728b97fb83e.json"}}], "type": "journal article", "published": "2019-04-00", "journal": {"volume": "51", "issn": "1546-1718", "issue": "4", "pages": "636-648", "title": "Nat. Genet.", "issn-l": "1061-4036"}, "abstract": "The concentrations of high- and low-density-lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations with lipids may be modified by smoking. We conducted a multi-ancestry genome-wide gene-smoking interaction study in 133,805 individuals with follow-up in an additional 253,467 individuals. Combined meta-analyses identified 13 new loci associated with lipids, some of which were detected only because association differed by smoking status. Additionally, we demonstrate the importance of including diverse populations, particularly in studies of interactions with lifestyle factors, where genomic and lifestyle differences by ancestry may contribute to novel findings.", "doi": "10.1038/s41588-019-0378-y", "pmid": "30926973", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41588-019-0378-y"}, {"db": "pmc", "key": "PMC6467258"}, {"db": "mid", "key": "NIHMS1521094"}], "notes": [], "created": "2019-04-12T14:00:38.931Z", "modified": "2021-06-21T12:08:20.267Z"}]}