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"Lakatta", "given": "Edward L M", "initials": "ELM", "orcid": "0000-0002-4772-0035", "researcher": {"href": "https://publications.scilifelab.se/researcher/bc797241e3fa45d7b9d8438568414f2a.json"}}, {"family": "Cheng", "given": "Ching-Yu", "initials": "C"}, {"family": "D\u00f6rr", "given": "Marcus", "initials": "M", "orcid": "0000-0001-7471-475X", "researcher": {"href": "https://publications.scilifelab.se/researcher/346fa1fbeb2e474b94f189d52d7cfb1c.json"}}, {"family": "Wong", "given": "Tien-Yin", "initials": "T"}, {"family": "Sabanayagam", "given": "Charumathi", "initials": "C", "orcid": "0000-0002-4042-4719", "researcher": {"href": "https://publications.scilifelab.se/researcher/a5ac2397f6b14194949f4dbb92a21eba.json"}}, {"family": "Oldehinkel", "given": "Albertine J", "initials": "AJ", "orcid": "0000-0003-3925-3913", "researcher": {"href": "https://publications.scilifelab.se/researcher/65ee5f9938f547bcbe51cbaf5fd7a9ba.json"}}, {"family": "Riese", "given": "Harriette", "initials": "H"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T", "orcid": "0000-0002-2555-4427", "researcher": {"href": "https://publications.scilifelab.se/researcher/03ed59707dae4c8fb9e63ac1f7c398e3.json"}}, {"family": "Verweij", "given": "Niek", "initials": "N"}, {"family": "van der Harst", "given": "Pim", "initials": "P"}], "type": "meta-analysis", "published": "2023-08-02", "journal": {"title": "Nat Commun", "issn": "2041-1723", "issn-l": "2041-1723", "volume": "14", "issue": "1", "pages": "4646"}, "abstract": "Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic variants and to obtain further insights in resting heart rate biology and its clinical consequences. A genome-wide meta-analysis of 100 studies in up to 835,465 individuals reveals 493 independent genetic variants in 352 loci, including 68 genetic variants outside previously identified resting heart rate associated loci. We prioritize 670 genes and in silico annotations point to their enrichment in cardiomyocytes and provide insights in their ECG signature. Two-sample Mendelian randomization analyses indicate that higher genetically predicted resting heart rate increases risk of dilated cardiomyopathy, but decreases risk of developing atrial fibrillation, ischemic stroke, and cardio-embolic stroke. We do not find evidence for a linear or non-linear genetic association between resting heart rate and all-cause mortality in contrast to our previous Mendelian randomization study. Systematic alteration of key differences between the current and previous Mendelian randomization study indicates that the most likely cause of the discrepancy between these studies arises from false positive findings in previous one-sample MR analyses caused by weak-instrument bias at lower P-value thresholds. The results extend our understanding of resting heart rate biology and give additional insights in its role in cardiovascular disease development.", "doi": "10.1038/s41467-023-39521-2", "pmid": "37532724", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10397318"}, {"db": "pii", "key": "10.1038/s41467-023-39521-2"}], "notes": [], "created": "2023-08-14T06:18:27.304Z", "modified": "2023-11-30T22:39:21.180Z"}, {"entity": "publication", "iuid": "feb48652b3a64f24ab3cc30b33e698ab", "links": {"self": {"href": "https://publications.scilifelab.se/publication/feb48652b3a64f24ab3cc30b33e698ab.json"}, "display": {"href": "https://publications.scilifelab.se/publication/feb48652b3a64f24ab3cc30b33e698ab"}}, "title": "Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.", "authors": [{"family": "Mathieson", "given": "Iain", "initials": "I", "orcid": "0000-0002-4256-3982", "researcher": {"href": "https://publications.scilifelab.se/researcher/ea771b602668431abd1a375ea66c46a6.json"}}, {"family": "Day", "given": "Felix R", "initials": "FR", "orcid": "0000-0003-3789-7651", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d9ffc4d251a4469bcb97dd24dcc4218.json"}}, {"family": "Barban", "given": "Nicola", "initials": "N"}, {"family": "Tropf", "given": "Felix C", "initials": "FC"}, {"family": "Brazel", "given": "David M", "initials": "DM"}, {"family": "eQTLGen Consortium", "given": "", "initials": ""}, {"family": "BIOS Consortium", "given": "", "initials": ""}, {"family": "Vaez", "given": "Ahmad", "initials": "A", "orcid": "0000-0001-9048-3795", "researcher": {"href": "https://publications.scilifelab.se/researcher/34a09aa88bc74e1285ddd71655dbddc3.json"}}, {"family": "van Zuydam", 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"https://publications.scilifelab.se/researcher/e9276827839a4f3cb50dcaa2ad4708a5.json"}}, {"family": "den Hoed", "given": "Marcel", "initials": "M", "orcid": "0000-0001-8081-428X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d712cc087d344b15ab9a7971640acebe.json"}}, {"family": "Ong", "given": "Ken K", "initials": "KK", "orcid": "0000-0003-4689-7530", "researcher": {"href": "https://publications.scilifelab.se/researcher/abdc034f3fa1428d9311a306a5446b35.json"}}, {"family": "Mills", "given": "Melinda C", "initials": "MC", "orcid": "0000-0003-1704-0001", "researcher": {"href": "https://publications.scilifelab.se/researcher/957f1b6833c64bbcb286e383512bc14b.json"}}, {"family": "Perry", "given": "John R B", "initials": "JRB", "orcid": "0000-0001-6483-3771", "researcher": {"href": "https://publications.scilifelab.se/researcher/39d95b143f6849b1b914bca9563218c8.json"}}], "type": "journal article", "published": "2023-03-02", "journal": {"title": "Nat Hum Behav", "issn": "2397-3374", "issn-l": null}, "abstract": "Identifying genetic determinants of reproductive success may highlight mechanisms underlying fertility and identify alleles under present-day selection. Using data in 785,604 individuals of European ancestry, we identified 43 genomic loci associated with either number of children ever born (NEB) or childlessness. These loci span diverse aspects of reproductive biology, including puberty timing, age at first birth, sex hormone regulation, endometriosis and age at menopause. Missense variants in ARHGAP27 were associated with higher NEB but shorter reproductive lifespan, suggesting a trade-off at this locus between reproductive ageing and intensity. Other genes implicated by coding variants include PIK3IP1, ZFP82 and LRP4, and our results suggest a new role for the melanocortin 1 receptor (MC1R) in reproductive biology. As NEB is one component of evolutionary fitness, our identified associations indicate loci under present-day natural selection. Integration with data from historical selection scans highlighted an allele in the FADS1/2 gene locus that has been under selection for thousands of years and remains so today. Collectively, our findings demonstrate that a broad range of biological mechanisms contribute to reproductive success.", "doi": "10.1038/s41562-023-01528-6", "pmid": "36864135", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41562-023-01528-6"}], "notes": [], "created": "2023-04-06T13:50:09.776Z", "modified": "2023-04-06T13:50:10.709Z"}, {"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", 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"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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"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": "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": 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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": "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": "e34ef08163944754a2a4a119c7fdfafa", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e34ef08163944754a2a4a119c7fdfafa.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e34ef08163944754a2a4a119c7fdfafa"}}, "title": "Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci.", "authors": [{"family": "de Las Fuentes", "given": "Lisa", "initials": "L", "orcid": "0000-0002-4689-325X", "researcher": {"href": "https://publications.scilifelab.se/researcher/87256c304d2f400d99b5a080aeed9185.json"}}, {"family": "Sung", "given": "Yun Ju", "initials": "YJ"}, {"family": "Noordam", "given": "Raymond", "initials": "R"}, {"family": "Winkler", "given": "Thomas", "initials": "T"}, {"family": "Feitosa", "given": "Mary F", "initials": "MF", "orcid": "0000-0002-0933-2410", "researcher": {"href": "https://publications.scilifelab.se/researcher/6e386c235834430eafaaca06e312aeb8.json"}}, {"family": "Schwander", "given": "Karen", "initials": "K"}, {"family": "Bentley", "given": "Amy R", "initials": "AR", "orcid": "0000-0002-0827-9101", "researcher": {"href": "https://publications.scilifelab.se/researcher/da79fd53be004c09b1ff6c81d1fb709c.json"}}, {"family": "Brown", "given": "Michael R", "initials": "MR"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Manning", "given": "Alisa", "initials": "A"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Aschard", "given": "Hugues", "initials": "H"}, {"family": "Bartz", "given": "Traci M", "initials": "TM"}, {"family": "Bielak", "given": "Lawrence F", "initials": "LF"}, {"family": "Campbell", "given": "Archie", "initials": "A", "orcid": "0000-0003-0198-5078", "researcher": {"href": "https://publications.scilifelab.se/researcher/89d6b9cb975246e5aa97c60035e2fdcc.json"}}, {"family": "Cheng", "given": "Ching-Yu", "initials": "C"}, {"family": "Dorajoo", "given": "Rajkumar", "initials": "R", "orcid": "0000-0001-6608-2051", "researcher": {"href": "https://publications.scilifelab.se/researcher/767739860e16400b8cbdf298e71aa572.json"}}, {"family": "Hartwig", "given": "Fernando P", "initials": "FP", "orcid": "0000-0003-3729-0710", "researcher": {"href": "https://publications.scilifelab.se/researcher/53c59f4b981b445ea9440ac57241adae.json"}}, {"family": "Horimoto", "given": "A R V R", "initials": "ARVR"}, {"family": "Li", "given": "Changwei", "initials": "C"}, {"family": "Li-Gao", "given": "Ruifang", "initials": "R"}, {"family": "Liu", "given": "Yongmei", "initials": "Y"}, {"family": "Marten", "given": "Jonathan", "initials": "J"}, {"family": "Musani", "given": "Solomon K", "initials": "SK"}, {"family": "Ntalla", "given": "Ioanna", "initials": "I"}, {"family": "Rankinen", "given": "Tuomo", "initials": "T"}, {"family": "Richard", "given": "Melissa", "initials": "M", "orcid": "0000-0003-0129-9860", "researcher": {"href": "https://publications.scilifelab.se/researcher/d69dc3a162a34d4b8c0b6e632f0819dc.json"}}, {"family": "Sim", "given": "Xueling", "initials": "X", "orcid": "0000-0002-1233-7642", "researcher": {"href": "https://publications.scilifelab.se/researcher/3216a8d2a7264a1390a886fa09d5d648.json"}}, {"family": "Smith", "given": "Albert V", "initials": "AV"}, {"family": "Tajuddin", "given": "Salman M", "initials": "SM"}, {"family": "Tayo", "given": "Bamidele O", "initials": "BO"}, {"family": "Vojinovic", "given": "Dina", "initials": "D"}, {"family": "Warren", "given": "Helen R", "initials": "HR"}, {"family": "Xuan", "given": "Deng", "initials": "D"}, {"family": "Alver", "given": "Maris", "initials": "M"}, {"family": "Boissel", "given": "Mathilde", "initials": "M", "orcid": "0000-0001-5719-8749", "researcher": {"href": "https://publications.scilifelab.se/researcher/4aba8dc8cb1f4a698e6d3d5febc96e06.json"}}, {"family": "Chai", "given": "Jin-Fang", "initials": "J"}, {"family": "Chen", "given": "Xu", "initials": "X", "orcid": "0000-0002-1106-8065", "researcher": {"href": "https://publications.scilifelab.se/researcher/08881c8819c4410baea357f82afa204a.json"}}, {"family": "Christensen", "given": "Kaare", "initials": "K", "orcid": "0000-0002-5429-5292", "researcher": {"href": "https://publications.scilifelab.se/researcher/e79ea43d09544efc95351b52ac682910.json"}}, {"family": "Divers", "given": "Jasmin", "initials": "J"}, {"family": "Evangelou", "given": "Evangelos", "initials": "E"}, {"family": "Gao", "given": "Chuan", "initials": "C"}, {"family": "Girotto", "given": "Giorgia", "initials": "G"}, {"family": "Harris", "given": "Sarah E", "initials": "SE", "orcid": "0000-0002-4941-5106", "researcher": {"href": "https://publications.scilifelab.se/researcher/1bbd06383e594035ab80af3bcdb29f91.json"}}, {"family": "He", "given": "Meian", "initials": "M"}, {"family": "Hsu", "given": "Fang-Chi", "initials": "F"}, {"family": "K\u00fchnel", "given": "Brigitte", "initials": "B"}, {"family": "Laguzzi", "given": "Federica", "initials": "F"}, {"family": "Li", "given": "Xiaoyin", "initials": "X"}, {"family": "Lyytik\u00e4inen", "given": "Leo-Pekka", "initials": "L"}, {"family": "Nolte", "given": "Ilja M", "initials": "IM", "orcid": "0000-0001-5047-4077", "researcher": {"href": "https://publications.scilifelab.se/researcher/abd76becaa8a4df284103c3e20261f10.json"}}, {"family": "Poveda", "given": "Alaitz", "initials": "A"}, {"family": "Rauramaa", "given": "Rainer", "initials": "R"}, {"family": "Riaz", "given": "Muhammad", "initials": "M"}, {"family": "Rueedi", "given": "Rico", "initials": "R"}, {"family": "Shu", "given": "Xiao-Ou", "initials": "X"}, {"family": "Snieder", "given": "Harold", "initials": "H", "orcid": "0000-0003-1949-2298", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9276827839a4f3cb50dcaa2ad4708a5.json"}}, {"family": "Sofer", "given": "Tamar", "initials": "T"}, {"family": "Takeuchi", "given": "Fumihiko", "initials": "F", "orcid": "0000-0003-3185-5661", "researcher": {"href": "https://publications.scilifelab.se/researcher/3f76d5798d144915b7d63f64917ec1e3.json"}}, {"family": "Verweij", "given": "Niek", "initials": "N"}, {"family": "Ware", "given": "Erin B", "initials": "EB", "orcid": "0000-0003-4731-8158", "researcher": {"href": "https://publications.scilifelab.se/researcher/675e10a2b27a4f4b9de0ee766c4907dc.json"}}, {"family": "Weiss", "given": "Stefan", "initials": "S", "orcid": "0000-0002-3553-4315", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a7c021b692c4fc1b2468c63fd0b2c43.json"}}, {"family": "Yanek", "given": "Lisa R", "initials": "LR", "orcid": "0000-0001-7117-1075", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ccbe54244ce407bb4361f52f02e3b59.json"}}, {"family": "Amin", "given": "Najaf", "initials": "N"}, {"family": "Arking", "given": "Dan E", "initials": "DE"}, {"family": "Arnett", "given": "Donna K", "initials": "DK"}, {"family": "Bergmann", "given": "Sven", "initials": "S", "orcid": "0000-0002-6785-9034", "researcher": {"href": "https://publications.scilifelab.se/researcher/07785d6cc5af460ca1901fe3819808fa.json"}}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Brody", "given": "Jennifer A", "initials": "JA", "orcid": "0000-0001-8509-148X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e137fc0192e4fa295a88589d57e3498.json"}}, {"family": "Broeckel", 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"given": "Xiaofeng", "initials": "X"}, {"family": "Bouchard", "given": "Claude", "initials": "C", "orcid": "0000-0002-0048-491X", "researcher": {"href": "https://publications.scilifelab.se/researcher/516e35bcb46449469c44596ac2c260b8.json"}}, {"family": "Cooper", "given": "Richard S", "initials": "RS"}, {"family": "Correa", "given": "Adolfo", "initials": "A"}, {"family": "Evans", "given": "Michele K", "initials": "MK"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V", "orcid": "0000-0001-5696-0084", "researcher": {"href": "https://publications.scilifelab.se/researcher/d18327939c1541acba054b2340ac174f.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Horta", "given": "Bernardo L", "initials": "BL", "orcid": "0000-0001-9843-412X", "researcher": {"href": "https://publications.scilifelab.se/researcher/1394a447fd314f05878d67dbc170f1ec.json"}}, {"family": "Kelly", "given": "Tanika N", "initials": "TN"}, {"family": "Kritchevsky", "given": "Stephen B", "initials": "SB"}, {"family": "Levy", "given": "Daniel", "initials": "D"}, {"family": "Palmas", "given": "Walter R", "initials": "WR"}, {"family": "Pereira", "given": "A C", "initials": "AC"}, {"family": "Province", "given": "Michael M", "initials": "MM"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Ridker", "given": "Paul M", "initials": "PM"}, {"family": "Rotimi", "given": "Charles N", "initials": "CN"}, {"family": "Tai", "given": "E Shyong", "initials": "ES"}, {"family": "van Dam", "given": "Rob M", "initials": "RM"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Wong", "given": "Tien Yin", "initials": "TY"}, {"family": "Rice", "given": "Kenneth", "initials": "K"}, {"family": "Gauderman", "given": "W James", "initials": "WJ"}, {"family": "Morrison", "given": "Alanna C", "initials": "AC"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Kardia", "given": "Sharon L R", "initials": "SLR"}, {"family": "Caulfield", "given": "Mark J", "initials": "MJ", "orcid": "0000-0001-9295-3594", "researcher": {"href": "https://publications.scilifelab.se/researcher/cc848c0cb6904712ad6b48c2058770f5.json"}}, {"family": "Elliott", "given": "Paul", "initials": "P"}, {"family": "Munroe", "given": "Patricia B", "initials": "PB"}, {"family": "Franks", "given": "Paul W", "initials": "PW"}, {"family": "Rao", "given": "Dabeeru C", "initials": "DC"}, {"family": "Fornage", "given": "Myriam", "initials": "M"}], "type": "journal article", "published": "2021-06-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184", "volume": "26", "issue": "6", "pages": "2111-2125"}, "abstract": "Educational attainment is widely used as a surrogate for socioeconomic status (SES). Low SES is a risk factor for hypertension and high blood pressure (BP). To identify novel BP loci, we performed multi-ancestry meta-analyses accounting for gene-educational attainment interactions using two variables, \"Some College\" (yes/no) and \"Graduated College\" (yes/no). Interactions were evaluated using both a 1 degree of freedom (DF) interaction term and a 2DF joint test of genetic and interaction effects. Analyses were performed for systolic BP, diastolic BP, mean arterial pressure, and pulse pressure. We pursued genome-wide interrogation in Stage 1 studies (N = 117 438) and follow-up on promising variants in Stage 2 studies (N = 293 787) in five ancestry groups. Through combined meta-analyses of Stages 1 and 2, we identified 84 known and 18 novel BP loci at genome-wide significance level (P < 5 \u00d7 10-8). Two novel loci were identified based on the 1DF test of interaction with educational attainment, while the remaining 16 loci were identified through the 2DF joint test of genetic and interaction effects. Ten novel loci were identified in individuals of African ancestry. Several novel loci show strong biological plausibility since they involve physiologic systems implicated in BP regulation. They include genes involved in the central nervous system-adrenal signaling axis (ZDHHC17, CADPS, PIK3C2G), vascular structure and function (GNB3, CDON), and renal function (HAS2 and HAS2-AS1, SLIT3). Collectively, these findings suggest a role of educational attainment or SES in further dissection of the genetic architecture of BP.", "doi": "10.1038/s41380-020-0719-3", "pmid": "32372009", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-020-0719-3"}, {"db": "pmc", "key": "PMC7641978"}, {"db": "mid", "key": "NIHMS1579455"}], "notes": [], "created": "2021-01-07T17:01:46.378Z", "modified": "2021-12-07T13:40:35.407Z"}, {"entity": "publication", "iuid": "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", 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"initials": "DJ", "orcid": "0000-0003-1249-6106", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6e3ae11c02e4cb89e638e1e5ae0f50a.json"}}, {"family": "Posthuma", "given": "Danielle", "initials": "D"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Rioux", "given": "John D", "initials": "JD", "orcid": "0000-0001-7560-8326", "researcher": {"href": "https://publications.scilifelab.se/researcher/93bdd54d4d5d402481de2c66601100df.json"}}, {"family": "Rivadeneira", "given": "Fernando", "initials": "F", "orcid": "0000-0001-9435-9441", "researcher": {"href": "https://publications.scilifelab.se/researcher/f8894904d3cf4671a2e563169829322a.json"}}, {"family": "Rotimi", "given": "Charles", "initials": "C", "orcid": "0000-0001-5759-053X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7fa2951fdebf4fddaad296d49b8f3f2b.json"}}, {"family": "Rotter", "given": "Jerome I", "initials": "JI", "orcid": "0000-0001-7191-1723", "researcher": 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"orcid": "0000-0002-1233-7642", "researcher": {"href": "https://publications.scilifelab.se/researcher/3216a8d2a7264a1390a886fa09d5d648.json"}}, {"family": "Small", "given": "Neil", "initials": "N"}, {"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": "Tai", "given": "E-Shyong", "initials": "ES"}, {"family": "Teumer", "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": "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": "0000-0002-0827-9101", "researcher": {"href": "https://publications.scilifelab.se/researcher/da79fd53be004c09b1ff6c81d1fb709c.json"}}, {"family": "Sung", "given": "Yun J", "initials": "YJ"}, {"family": "Brown", "given": "Michael R", "initials": "MR"}, {"family": "Winkler", "given": "Thomas W", "initials": "TW"}, {"family": "Kraja", "given": "Aldi T", "initials": "AT"}, {"family": "Ntalla", "given": "Ioanna", "initials": "I"}, {"family": "Schwander", "given": "Karen", "initials": "K"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Lim", "given": "Elise", "initials": "E"}, {"family": "Deng", "given": "Xuan", "initials": "X"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Liu", "given": "Jingmin", "initials": "J", "orcid": "0000-0002-3255-3019", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4605b386ede4c4dab42fbf39dc266d5.json"}}, {"family": "Lu", "given": "Yingchang", "initials": "Y"}, 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"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"}, {"entity": "publication", "iuid": "dfe06efb3c6746b1ba351aec04047a2f", "links": {"self": {"href": "https://publications.scilifelab.se/publication/dfe06efb3c6746b1ba351aec04047a2f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/dfe06efb3c6746b1ba351aec04047a2f"}}, "title": "Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.", "authors": [{"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.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": "Chu", "given": "Audrey Y", "initials": "AY"}, {"family": "Li", "given": "Man", "initials": "M"}, {"family": "Mijatovic", "given": "Vladan", "initials": "V"}, {"family": "Garnaas", "given": "Maija", "initials": "M"}, {"family": "Tin", "given": "Adrienne", "initials": "A"}, {"family": "Sorice", "given": "Rossella", "initials": "R"}, {"family": "Li", "given": "Yong", "initials": "Y"}, {"family": "Taliun", "given": "Daniel", "initials": "D"}, {"family": "Olden", 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{"family": "Aalto", "given": "Ville", "initials": "V"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V"}, {"family": "Chouraki", "given": "Vincent", "initials": "V"}, {"family": "Chen", "given": "Wei-Min", "initials": "WM"}, {"family": "Igl", "given": "Wilmar", "initials": "W"}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Koenig", "given": "Wolfgang", "initials": "W"}, {"family": "Lieb", "given": "Wolfgang", "initials": "W"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJ"}, {"family": "Liu", "given": "Yongmei", "initials": "Y"}, {"family": "Snieder", "given": "Harold", "initials": "H"}, {"family": "Pramstaller", "given": "Peter P", "initials": "PP"}, {"family": "Parsa", "given": "Afshin", "initials": "A"}, {"family": "O'Connell", "given": "Jeffrey R", "initials": "JR"}, {"family": "Susztak", "given": "Katalin", "initials": "K"}, {"family": "Hamet", "given": "Pavel", "initials": "P"}, {"family": "Tremblay", "given": "Johanne", "initials": "J"}, {"family": "de Boer", "given": "Ian H", "initials": "IH"}, {"family": "B\u00f6ger", "given": "Carsten A", "initials": "CA"}, {"family": "Goessling", "given": "Wolfram", "initials": "W", "orcid": "0000-0001-9972-1569", "researcher": {"href": "https://publications.scilifelab.se/researcher/f5b458ffb873412681705bace6261451.json"}}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A"}, {"family": "Kao", "given": "W H Linda", "initials": "WH"}, {"family": "Fox", "given": "Caroline S", "initials": "CS"}], "type": "journal article", "published": "2016-01-21", "journal": {"volume": "7", "issn": "2041-1723", "issue": "1", "pages": "10023", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.", "doi": "10.1038/ncomms10023", "pmid": "26831199", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS733914"}, {"db": "pmc", "key": "PMC4735748"}, {"db": "pii", "key": "ncomms10023"}], "notes": [], "created": "2017-05-08T07:57:33.691Z", "modified": "2024-01-16T13:48:50.575Z"}]}