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"initials": "M", "orcid": "0000-0002-9667-7555", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a91c095e993411b99e81e21f40d8597.json"}}, {"family": "Lichtenstein", "given": "Paul", "initials": "P", "orcid": "0000-0003-3037-5287", "researcher": {"href": "https://publications.scilifelab.se/researcher/4db67c51837b4cdfa18cacbc3fca1173.json"}}, {"family": "Kaprio", "given": "Jaakko", "initials": "J", "orcid": "0000-0002-3716-2455", "researcher": {"href": "https://publications.scilifelab.se/researcher/814d362333844b72a70cba9ebcf61e6f.json"}}, {"family": "Eley", "given": "Thalia C", "initials": "TC", "orcid": "0000-0001-6458-0700", "researcher": {"href": "https://publications.scilifelab.se/researcher/a5eb736ac79d451c82ed6c18414ccad4.json"}}, {"family": "Davies", "given": "Neil M", "initials": "NM", "orcid": "0000-0002-2460-0508", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ab6ffbb98594ea69b9fee350cc221e2.json"}}, {"family": "Munroe", "given": "Patricia B", "initials": "PB", "orcid": "0000-0002-4176-2947", "researcher": {"href": "https://publications.scilifelab.se/researcher/657544a7f921459f926aae5cd0e2065c.json"}}, {"family": "Keers", "given": "Robert", "initials": "R"}], "type": "journal article", "published": "2025-08-00", "journal": {"title": "Nat Hum Behav", "issn": "2397-3374", "volume": "9", "issue": "8", "pages": "1683-1696", "issn-l": null}, "abstract": "Individual sensitivity to environmental exposures may be genetically influenced. This genotype-by-environment interplay implies differences in phenotypic variance across genotypes, but these variants have proven challenging to detect. Genome-wide association studies of monozygotic twin differences are conducted through family-based variance analyses, which are more robust to the systemic biases that impact population-based methods. We combined data from 21,792 monozygotic twins (10,896 pairs) from 11 studies to conduct one of the largest genome-wide association study meta-analyses of monozygotic phenotypic differences, in children, adolescents and adults separately, for seven psychiatric and neurodevelopmental phenotypes: attention deficit hyperactivity disorder symptoms, autistic traits, anxiety and depression symptoms, psychotic-like experiences, neuroticism and wellbeing. The proportions of phenotypic variance explained by single-nucleotide polymorphisms in these phenotypes were estimated (h2 = 0-18%), but were imprecise. We identified 13 genome-wide significant associations (single-nucleotide polymorphisms, genes and gene sets), including genes related to stress reactivity for depression, growth factor-related genes for autistic traits and catecholamine uptake-related genes for psychotic-like experiences. This is the largest genetic study of monozygotic twins to date by an order of magnitude, evidencing an alternative method to study the genetic architecture of environmental sensitivity. The statistical power was limited for some analyses, calling for better-powered future studies.", "doi": "10.1038/s41562-025-02193-7", "pmid": "40494901", "labels": {"NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12367547"}, {"db": "pii", "key": "10.1038/s41562-025-02193-7"}], "notes": [], "created": "2025-09-08T11:34:10.493Z", "modified": "2025-09-08T11:34:12.043Z"}, {"entity": "publication", "iuid": "6f8f6cd1462b4c9e8cef52480dc55daa", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6f8f6cd1462b4c9e8cef52480dc55daa.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6f8f6cd1462b4c9e8cef52480dc55daa"}}, "title": "Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.", "authors": [{"family": "Shrine", 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"https://publications.scilifelab.se/researcher/991fd686a4a040a1a197c1f32d5b731b.json"}}, {"family": "London", "given": "Stephanie J", "initials": "SJ", "orcid": "0000-0003-4911-5290", "researcher": {"href": "https://publications.scilifelab.se/researcher/7542ea2dd880470b8f3330e8b74eeb5c.json"}}, {"family": "Cho", "given": "Michael H", "initials": "MH", "orcid": "0000-0002-4907-1657", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa377da2fe604b18babe1ab6475ad942.json"}}, {"family": "Wain", "given": "Louise V", "initials": "LV", "orcid": "0000-0003-4951-1867", "researcher": {"href": "https://publications.scilifelab.se/researcher/f5ac36354ef94bafa622965e847cbae7.json"}}, {"family": "Hall", "given": "Ian P", "initials": "IP", "orcid": "0000-0001-9933-3216", "researcher": {"href": "https://publications.scilifelab.se/researcher/7a31b8b1ed6d42abb9a64b387bb0a414.json"}}, {"family": "Tobin", "given": "Martin D", "initials": "MD", "orcid": "0000-0002-3596-7874", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0664d5fa4c4449681bf3baeac074584.json"}}], "type": "meta-analysis", "published": "2023-03-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "55", "issue": "3", "pages": "410-422", "issn-l": "1061-4036"}, "abstract": "Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by \u22652 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. We undertook phenome-wide association studies for selected associated variants as well as trait and pathway-specific genetic risk scores to infer possible consequences of intervening in pathways underlying lung function. We highlight new putative causal variants, genes, proteins and pathways, including those targeted by existing drugs. These findings bring us closer to understanding the mechanisms underlying lung function and COPD, and should inform functional genomics experiments and potentially future COPD therapies.", "doi": "10.1038/s41588-023-01314-0", "pmid": "36914875", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10011137"}, {"db": "pii", "key": "10.1038/s41588-023-01314-0"}], "notes": [], "created": "2023-04-06T13:50:14.193Z", "modified": "2023-04-06T13:50:15.219Z"}, {"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", 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"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": "5321d052b82a493991baf82d30627863", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5321d052b82a493991baf82d30627863.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5321d052b82a493991baf82d30627863"}}, "title": "Genetic association study of childhood aggression across raters, instruments, and age.", "authors": [{"family": "Ip", "given": "Hill F", "initials": "HF", "orcid": "0000-0003-1991-5019", "researcher": {"href": "https://publications.scilifelab.se/researcher/b04deeb54c174ad5aaed5247d9303dd2.json"}}, {"family": "van der Laan", "given": "Camiel M", "initials": "CM"}, {"family": "Krapohl", "given": "Eva M L", "initials": "EML"}, {"family": "Brikell", "given": "Isabell", "initials": "I"}, {"family": "S\u00e1nchez-Mora", "given": "Cristina", "initials": "C", "orcid": "0000-0003-4211-1107", "researcher": {"href": "https://publications.scilifelab.se/researcher/b191e52b7d984841a81f05d77f7e0d08.json"}}, {"family": "Nolte", "given": "Ilja M", "initials": "IM", "orcid": "0000-0001-5047-4077", "researcher": {"href": "https://publications.scilifelab.se/researcher/abd76becaa8a4df284103c3e20261f10.json"}}, {"family": "St Pourcain", "given": "Beate", "initials": "B", "orcid": "0000-0002-4680-3517", "researcher": {"href": "https://publications.scilifelab.se/researcher/d5cfdc61a13f46589373c8c4b5a15a47.json"}}, {"family": "Bolhuis", "given": "Koen", "initials": "K"}, {"family": "Palviainen", "given": "Teemu", "initials": "T", "orcid": "0000-0002-7847-8384", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcbc4c92052b4819b5d7d821c0c421b0.json"}}, {"family": "Zafarmand", "given": "Hadi", "initials": "H"}, {"family": "Colodro-Conde", "given": "Luc\u00eda", "initials": "L", "orcid": "0000-0002-9004-364X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a3d04cc447a34470a5063ae581eb9030.json"}}, {"family": "Gordon", "given": "Scott", "initials": "S", "orcid": "0000-0001-7623-328X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8815739662214e75b60f71f0b1ca58a6.json"}}, {"family": "Zayats", "given": "Tetyana", "initials": "T"}, {"family": "Aliev", "given": "Fazil", "initials": "F", "orcid": "0000-0001-8357-4699", "researcher": {"href": "https://publications.scilifelab.se/researcher/85556629452a4054bf7228b5f7049811.json"}}, {"family": "Jiang", "given": "Chang", "initials": "C"}, {"family": "Wang", "given": "Carol A", "initials": "CA"}, {"family": "Saunders", "given": "Gretchen", "initials": "G"}, {"family": "Karhunen", "given": "Ville", "initials": "V", "orcid": "0000-0001-6064-1588", "researcher": {"href": "https://publications.scilifelab.se/researcher/219a89cb373447218073a1f58fb77864.json"}}, {"family": "Hammerschlag", "given": "Anke R", "initials": "AR"}, {"family": "Adkins", "given": "Daniel E", "initials": "DE"}, {"family": "Border", "given": "Richard", "initials": "R", "orcid": "0000-0002-6293-2968", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a0382c1a2bb4c0ca9e9c2256b0ce00b.json"}}, {"family": "Peterson", "given": "Roseann E", "initials": "RE"}, {"family": "Prinz", "given": "Joseph A", "initials": "JA"}, {"family": "Thiering", "given": "Elisabeth", "initials": "E"}, {"family": "Sepp\u00e4l\u00e4", "given": "Ilkka", "initials": "I"}, {"family": "Vilor-Tejedor", "given": "Nat\u00e0lia", "initials": "N"}, {"family": "Ahluwalia", "given": "Tarunveer S", "initials": "TS", "orcid": "0000-0002-7464-3354", "researcher": {"href": "https://publications.scilifelab.se/researcher/2fde142189574b44a72155785763a327.json"}}, {"family": "Day", "given": "Felix R", "initials": "FR", "orcid": "0000-0003-3789-7651", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d9ffc4d251a4469bcb97dd24dcc4218.json"}}, {"family": "Hottenga", "given": "Jouke-Jan", "initials": "J"}, {"family": "Allegrini", "given": "Andrea G", "initials": "AG"}, {"family": "Rimfeld", "given": "Kaili", "initials": "K", "orcid": "0000-0001-5139-065X", "researcher": {"href": "https://publications.scilifelab.se/researcher/660709eb850544ba8c84fbc86cb53ac6.json"}}, {"family": "Chen", "given": "Qi", "initials": "Q"}, {"family": "Lu", "given": "Yi", "initials": "Y", "orcid": "0000-0001-9933-3654", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a73eafe0b0e4221a77b96800883413d.json"}}, {"family": "Martin", "given": "Joanna", "initials": "J"}, {"family": "Soler Artigas", "given": "Mar\u00eda", "initials": "M", "orcid": "0000-0002-3213-1107", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e0e1e065b024da28acc1e1e0d14c773.json"}}, {"family": "Rovira", "given": "Paula", "initials": "P"}, {"family": "Bosch", "given": "Rosa", "initials": "R", "orcid": "0000-0002-7596-183X", "researcher": {"href": "https://publications.scilifelab.se/researcher/86bdf80d16c34257b4aa6742ff396c89.json"}}, {"family": "Espa\u00f1ol", "given": "Gemma", "initials": "G"}, {"family": "Ramos Quiroga", "given": "Josep Antoni", "initials": "JA", "orcid": "0000-0003-1622-0350", "researcher": {"href": "https://publications.scilifelab.se/researcher/d301b6f1b0ca48b3a5c8c4b8e07a3984.json"}}, {"family": "Neumann", "given": "Alexander", "initials": "A", "orcid": "0000-0001-6653-3203", "researcher": {"href": "https://publications.scilifelab.se/researcher/e51ca6c997164410957bb8cac445d3e4.json"}}, {"family": "Ensink", "given": "Judith", "initials": "J"}, {"family": "Grasby", "given": "Katrina", "initials": "K", "orcid": "0000-0001-8539-0228", "researcher": {"href": "https://publications.scilifelab.se/researcher/a8e9d35817bc460ea594b892e5d2030e.json"}}, {"family": "Morosoli", "given": "Jos\u00e9 J", "initials": "JJ"}, {"family": "Tong", "given": "Xiaoran", "initials": "X"}, {"family": "Marrington", "given": "Shelby", "initials": "S"}, {"family": "Middeldorp", "given": "Christel", "initials": "C", "orcid": "0000-0002-6218-0428", "researcher": {"href": "https://publications.scilifelab.se/researcher/db38533fb54249b99f1d67d95e19af74.json"}}, {"family": "Scott", "given": "James G", "initials": "JG"}, {"family": "Vinkhuyzen", "given": "Anna", "initials": "A"}, {"family": "Shabalin", "given": "Andrey A", "initials": "AA"}, {"family": "Corley", "given": "Robin", "initials": "R"}, {"family": "Evans", "given": "Luke M", "initials": "LM", "orcid": "0000-0002-7458-1720", "researcher": {"href": "https://publications.scilifelab.se/researcher/ac3c651e69a9455d9e8cb7921afb05d9.json"}}, {"family": "Sugden", "given": "Karen", "initials": "K"}, {"family": "Alemany", "given": "Silvia", "initials": "S", "orcid": "0000-0002-7925-6767", "researcher": {"href": "https://publications.scilifelab.se/researcher/da641b351c9f48fcbd54a186d28806e5.json"}}, {"family": "Sass", "given": "L\u00e6rke", "initials": "L", "orcid": "0000-0002-5217-7014", "researcher": {"href": "https://publications.scilifelab.se/researcher/950b17ef41394606b8023743f86aba1c.json"}}, {"family": "Vinding", "given": "Rebecca", "initials": "R"}, {"family": "Ruth", "given": "Kate", "initials": "K", "orcid": "0000-0003-4966-9170", "researcher": {"href": "https://publications.scilifelab.se/researcher/e5569a5bc7384a75a5a98c2bf04ded7b.json"}}, {"family": "Tyrrell", "given": "Jess", "initials": "J"}, {"family": "Davies", "given": "Gareth E", "initials": "GE"}, {"family": "Ehli", "given": "Erik A", "initials": "EA", "orcid": "0000-0002-7865-3015", "researcher": {"href": "https://publications.scilifelab.se/researcher/16c7ee4d9b20410ba4975ffa49c4b03e.json"}}, {"family": "Hagenbeek", "given": "Fiona A", "initials": "FA", "orcid": "0000-0002-8773-0430", "researcher": {"href": "https://publications.scilifelab.se/researcher/1874bbcb93ed4633879199558ae54877.json"}}, {"family": "De Zeeuw", "given": "Eveline", "initials": "E"}, {"family": "Van Beijsterveldt", "given": "Toos C E M", "initials": "TCEM"}, {"family": "Larsson", "given": "Henrik", "initials": "H"}, {"family": "Snieder", "given": "Harold", "initials": "H", "orcid": "0000-0003-1949-2298", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9276827839a4f3cb50dcaa2ad4708a5.json"}}, {"family": "Verhulst", "given": "Frank C", "initials": "FC"}, {"family": "Amin", "given": "Najaf", "initials": "N"}, {"family": "Whipp", "given": "Alyce M", "initials": "AM"}, {"family": "Korhonen", "given": "Tellervo", "initials": "T"}, {"family": "Vuoksimaa", "given": "Eero", "initials": "E"}, {"family": "Rose", "given": "Richard J", "initials": "RJ"}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications.scilifelab.se/researcher/273577b238854023a9dffe34dabc3551.json"}}, {"family": "Heath", "given": "Andrew C", "initials": "AC"}, {"family": "Madden", "given": "Pamela", "initials": "P"}, {"family": "Haavik", "given": "Jan", "initials": "J", "orcid": "0000-0001-7865-2808", "researcher": {"href": "https://publications.scilifelab.se/researcher/68db11f9f0c246bdb7cd7943fbdb2af0.json"}}, {"family": "Harris", "given": "Jennifer R", "initials": "JR"}, {"family": "Helgeland", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Johansson", "given": "Stefan", "initials": "S", "orcid": "0000-0002-2298-7008", "researcher": {"href": "https://publications.scilifelab.se/researcher/1b957ea589b342fb9def8ce13ef3bd7e.json"}}, {"family": "Knudsen", "given": "Gun Peggy S", "initials": "GPS", "orcid": "0000-0002-6193-4291", "researcher": {"href": "https://publications.scilifelab.se/researcher/1d14dc1ad847447789b7d9b2176cd972.json"}}, {"family": "Njolstad", "given": "Pal Rasmus", "initials": "PR", "orcid": "0000-0003-0304-6728", "researcher": {"href": "https://publications.scilifelab.se/researcher/7369f0ad21d9406cadc53eec4b05a71b.json"}}, {"family": "Lu", "given": "Qing", "initials": "Q"}, {"family": "Rodriguez", "given": "Alina", "initials": "A", "orcid": "0000-0003-1209-8802", "researcher": {"href": "https://publications.scilifelab.se/researcher/3b887eeb21fe4ebd8e9ab58c409b052a.json"}}, {"family": "Henders", "given": "Anjali K", "initials": "AK"}, {"family": "Mamun", "given": "Abdullah", "initials": "A"}, {"family": "Najman", "given": "Jackob M", "initials": "JM"}, {"family": "Brown", "given": "Sandy", "initials": "S", "orcid": "0000-0001-8780-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/b7595d4595284a879786dedad90c490b.json"}}, {"family": "Hopfer", "given": "Christian", "initials": "C"}, {"family": "Krauter", "given": "Kenneth", "initials": "K"}, {"family": "Reynolds", "given": "Chandra", "initials": "C"}, {"family": "Smolen", "given": "Andrew", "initials": "A"}, {"family": "Stallings", "given": "Michael", "initials": "M"}, {"family": "Wadsworth", "given": "Sally", "initials": "S"}, {"family": "Wall", "given": "Tamara L", "initials": "TL"}, {"family": "Silberg", "given": "Judy L", "initials": "JL"}, {"family": "Miller", "given": "Allison", "initials": "A", "orcid": "0000-0003-3816-2251", "researcher": {"href": "https://publications.scilifelab.se/researcher/e6311431d086475abc6b2842984202be.json"}}, {"family": "Keltikangas-J\u00e4rvinen", "given": "Liisa", "initials": "L", "orcid": "0000-0002-7977-3852", "researcher": {"href": "https://publications.scilifelab.se/researcher/070ce33c4a654544beaccf943345ef6c.json"}}, {"family": "Hakulinen", "given": "Christian", "initials": "C"}, {"family": "Pulkki-R\u00e5back", "given": "Laura", "initials": "L"}, {"family": "Havdahl", "given": "Alexandra", "initials": "A", "orcid": "0000-0002-9268-0423", "researcher": {"href": "https://publications.scilifelab.se/researcher/27ff8da085f7404c920bad58b6b907a3.json"}}, {"family": "Magnus", "given": "Per", "initials": "P"}, {"family": "Raitakari", "given": "Olli T", "initials": "OT"}, {"family": "Perry", "given": "John R B", "initials": "JRB", "orcid": "0000-0001-6483-3771", "researcher": {"href": "https://publications.scilifelab.se/researcher/39d95b143f6849b1b914bca9563218c8.json"}}, {"family": "Llop", "given": "Sabrina", "initials": "S"}, {"family": "Lopez-Espinosa", "given": "Maria-Jose", "initials": "M"}, {"family": "B\u00f8nnelykke", "given": "Klaus", "initials": "K"}, {"family": "Bisgaard", "given": "Hans", "initials": "H"}, {"family": "Sunyer", "given": "Jordi", "initials": "J"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T", "orcid": "0000-0002-2555-4427", "researcher": {"href": "https://publications.scilifelab.se/researcher/03ed59707dae4c8fb9e63ac1f7c398e3.json"}}, {"family": "Arseneault", "given": "Louise", "initials": "L", "orcid": "0000-0002-2938-2191", "researcher": {"href": "https://publications.scilifelab.se/researcher/0664e4afe7de4354924a1b39b87cf570.json"}}, {"family": "Standl", "given": "Marie", "initials": "M"}, {"family": "Heinrich", "given": "Joachim", "initials": "J"}, {"family": "Boden", "given": "Joseph", "initials": "J", "orcid": "0000-0003-1502-1608", "researcher": {"href": 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"0000-0002-1348-7781", "researcher": {"href": "https://publications.scilifelab.se/researcher/751b7c2a826748168fa3eab48fd71bc6.json"}}, {"family": "Costello", "given": "Elizabeth J", "initials": "EJ"}, {"family": "Williams", "given": "Gail M", "initials": "GM"}, {"family": "Wray", "given": "Naomi", "initials": "N", "orcid": "0000-0001-7421-3357", "researcher": {"href": "https://publications.scilifelab.se/researcher/15a175036d9f44f9b4090d7d431f78d7.json"}}, {"family": "J\u00e4rvelin", "given": "Marjo-Riitta", "initials": "M"}, {"family": "McGue", "given": "Matt", "initials": "M", "orcid": "0000-0002-5580-1433", "researcher": {"href": "https://publications.scilifelab.se/researcher/8e55e07667274620b817abebddcbede5.json"}}, {"family": "Iacono", "given": "William", "initials": "W"}, {"family": "Caspi", "given": "Avshalom", "initials": "A"}, {"family": "Moffitt", "given": "Terrie E", "initials": "TE"}, {"family": "Whitehouse", "given": "Andrew", "initials": "A"}, {"family": "Pennell", "given": "Craig E", "initials": "CE", "orcid": "0000-0002-0937-6165", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e35a98141ce4350b6775593f87e40a5.json"}}, {"family": "Klump", "given": "Kelly L", "initials": "KL"}, {"family": "Burt", "given": "S Alexandra", "initials": "SA"}, {"family": "Dick", "given": "Danielle M", "initials": "DM", "orcid": "0000-0002-1636-893X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b2567011fc84f32a0a1f17c277dbefe.json"}}, {"family": "Reichborn-Kjennerud", "given": "Ted", "initials": "T"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG", "orcid": "0000-0003-4069-8020", "researcher": {"href": "https://publications.scilifelab.se/researcher/1b445e5935f74fd6a71b2e92a9dac176.json"}}, {"family": "Medland", "given": "Sarah E", "initials": "SE", "orcid": "0000-0003-1382-380X", "researcher": {"href": "https://publications.scilifelab.se/researcher/da1f0230a912425c9237830be85aa642.json"}}, {"family": "Vrijkotte", "given": "Tanja", "initials": "T"}, {"family": "Kaprio", "given": "Jaakko", "initials": "J", "orcid": "0000-0002-3716-2455", "researcher": {"href": "https://publications.scilifelab.se/researcher/814d362333844b72a70cba9ebcf61e6f.json"}}, {"family": "Tiemeier", "given": "Henning", "initials": "H", "orcid": "0000-0002-4395-1397", "researcher": {"href": "https://publications.scilifelab.se/researcher/73e05bd74af344ba8d963463f49bb242.json"}}, {"family": "Davey Smith", "given": "George", "initials": "G", "orcid": "0000-0002-1407-8314", "researcher": {"href": "https://publications.scilifelab.se/researcher/0790d5850377432087ad3900af0044e0.json"}}, {"family": "Hartman", "given": "Catharina A", "initials": "CA"}, {"family": "Oldehinkel", "given": "Albertine J", "initials": "AJ", "orcid": "0000-0003-3925-3913", "researcher": {"href": "https://publications.scilifelab.se/researcher/65ee5f9938f547bcbe51cbaf5fd7a9ba.json"}}, {"family": "Casas", "given": "Miquel", "initials": "M"}, {"family": "Ribas\u00e9s", "given": "Marta", "initials": "M", "orcid": "0000-0003-1039-1116", "researcher": {"href": "https://publications.scilifelab.se/researcher/643ddd67f10547c3a68ab3c5cd9ee627.json"}}, {"family": "Lichtenstein", "given": "Paul", "initials": "P", "orcid": "0000-0003-3037-5287", "researcher": {"href": "https://publications.scilifelab.se/researcher/4db67c51837b4cdfa18cacbc3fca1173.json"}}, {"family": "Lundstr\u00f6m", "given": "Sebastian", "initials": "S"}, {"family": "Plomin", "given": "Robert", "initials": "R", "orcid": "0000-0002-0756-3629", "researcher": {"href": "https://publications.scilifelab.se/researcher/26e3ca0c39ff4a5087146d5125e0190f.json"}}, {"family": "Bartels", "given": "Meike", "initials": "M", "orcid": "0000-0002-9667-7555", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a91c095e993411b99e81e21f40d8597.json"}}, {"family": "Nivard", "given": "Michel G", "initials": "MG", "orcid": "0000-0003-2015-1888", "researcher": {"href": "https://publications.scilifelab.se/researcher/0d65d2277e7344a3a13f0d2193c6813b.json"}}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}], "type": "journal article", "published": "2021-07-30", "journal": {"title": "Transl Psychiatry", "issn": "2158-3188", "issn-l": "2158-3188", "volume": "11", "issue": "1", "pages": "413"}, "abstract": "Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three significant genes: ST3GAL3 (P = 1.6E-06), PCDH7 (P = 2.0E-06), and IPO13 (P = 2.5E-06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout sample of children (variance explained = 0.44%) and in retrospectively assessed childhood aggression (variance explained = 0.20%). Genetic correlations (rg) among rater-specific assessment of AGG ranged from rg = 0.46 between self- and teacher-assessment to rg = 0.81 between mother- and teacher-assessment. We obtained moderate-to-strong rgs with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range [Formula: see text]: 0.19-1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation (rg = ~-0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range [Formula: see text]: 0.46-0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- and self-reported AGG. The current GWAMA of childhood aggression provides a powerful tool to interrogate the rater-specific genetic etiology of AGG.", "doi": "10.1038/s41398-021-01480-x", "pmid": "34330890", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41398-021-01480-x"}, {"db": "pmc", "key": "PMC8324785"}], "notes": [], "created": "2021-08-19T13:42:02.005Z", "modified": "2021-12-07T13:20:40.961Z"}, {"entity": "publication", "iuid": "3781a12ed3544fa9b3e1a2daa02dc54b", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3781a12ed3544fa9b3e1a2daa02dc54b.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3781a12ed3544fa9b3e1a2daa02dc54b"}}, "title": "DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan.", "authors": [{"family": "van Dongen", "given": "Jenny", "initials": "J", "orcid": "0000-0003-2063-8741", "researcher": {"href": "https://publications.scilifelab.se/researcher/fc28125d1b68438ea1a419437ad335c9.json"}}, {"family": "Hagenbeek", "given": "Fiona A", "initials": "FA", "orcid": "0000-0002-8773-0430", "researcher": {"href": "https://publications.scilifelab.se/researcher/1874bbcb93ed4633879199558ae54877.json"}}, {"family": "Suderman", "given": "Matthew", "initials": "M"}, {"family": "Roetman", "given": "Peter J", "initials": "PJ", "orcid": "0000-0002-6495-962X", "researcher": {"href": "https://publications.scilifelab.se/researcher/bd0b47e8144d4b0ab0c3bad505a1636f.json"}}, {"family": "Sugden", "given": "Karen", "initials": "K"}, {"family": "Chiocchetti", "given": "Andreas G", "initials": "AG", "orcid": "0000-0002-7329-9985", "researcher": {"href": "https://publications.scilifelab.se/researcher/b90b3aecf61a44f090e0511a52b0ebec.json"}}, {"family": "Ismail", "given": "Khadeeja", "initials": "K", "orcid": "0000-0003-0334-6480", "researcher": {"href": "https://publications.scilifelab.se/researcher/414de7510f734abb89a46dee9b50e708.json"}}, {"family": "Mulder", "given": "Rosa H", "initials": "RH"}, {"family": "Hafferty", "given": "Jonathan D", "initials": "JD"}, {"family": "Adams", "given": "Mark J", "initials": "MJ", "orcid": "0000-0002-3599-6018", "researcher": {"href": "https://publications.scilifelab.se/researcher/c669a6fd44e642429518845e37908dad.json"}}, {"family": "Walker", "given": "Rosie M", "initials": "RM", "orcid": "0000-0002-1060-4479", "researcher": {"href": "https://publications.scilifelab.se/researcher/79a65025d1a64ed2b383e69c803df0a4.json"}}, {"family": "Morris", "given": "Stewart W", "initials": "SW"}, {"family": "Lahti", "given": "Jari", "initials": "J", "orcid": "0000-0002-4310-5297", "researcher": {"href": "https://publications.scilifelab.se/researcher/09e0eb71fa6241449afef2b0542a738f.json"}}, {"family": "K\u00fcpers", "given": "Leanne K", "initials": "LK", "orcid": "0000-0001-9850-5215", "researcher": {"href": "https://publications.scilifelab.se/researcher/0a7f65b1431144afaba1acee5eea8fb6.json"}}, {"family": "Escaramis", "given": "Georgia", "initials": "G", "orcid": "0000-0002-5416-3177", "researcher": {"href": "https://publications.scilifelab.se/researcher/f1dcce4d1f2b4d4990c089441f6f2783.json"}}, {"family": "Alemany", "given": "Silvia", "initials": "S", "orcid": "0000-0002-7925-6767", "researcher": {"href": "https://publications.scilifelab.se/researcher/da641b351c9f48fcbd54a186d28806e5.json"}}, {"family": "Jan Bonder", "given": "Marc", "initials": "M", "orcid": "0000-0002-8431-3180", "researcher": {"href": "https://publications.scilifelab.se/researcher/a18167251318437c8eee87953b99e135.json"}}, {"family": "Meijer", "given": "Mandy", "initials": "M", "orcid": "0000-0002-9307-0643", "researcher": {"href": "https://publications.scilifelab.se/researcher/5964fc675db64b5ea17e02ed35999449.json"}}, {"family": "Ip", "given": "Hill F", "initials": "HF", "orcid": "0000-0003-1991-5019", "researcher": {"href": "https://publications.scilifelab.se/researcher/b04deeb54c174ad5aaed5247d9303dd2.json"}}, {"family": "Jansen", "given": "Rick", "initials": "R", "orcid": "0000-0002-3333-6737", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcd392c9b9784ebe8c8730e05463377a.json"}}, {"family": "Baselmans", "given": "Bart M L", "initials": "BML"}, {"family": "Parmar", "given": "Priyanka", "initials": "P"}, {"family": "Lowry", "given": "Estelle", "initials": "E", "orcid": "0000-0002-4655-416X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7b0c07b3d19434f8f99de3e6ece921d.json"}}, {"family": "Streit", "given": "Fabian", "initials": "F", "orcid": "0000-0003-1080-4339", "researcher": {"href": "https://publications.scilifelab.se/researcher/faf42f4a84df4b3193cf59884ec8661b.json"}}, {"family": "Sirignano", "given": "Lea", "initials": "L", "orcid": "0000-0002-7989-5833", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3e25818ffe646f8a843b8fea4fa1eee.json"}}, {"family": "Send", "given": "Tabea S", "initials": "TS"}, {"family": "Frank", "given": "Josef", "initials": "J", "orcid": "0000-0003-4867-9465", "researcher": {"href": "https://publications.scilifelab.se/researcher/041d6a59ba7d4c2dab9706861964bce1.json"}}, {"family": "Jylh\u00e4v\u00e4", "given": "Juulia", "initials": "J"}, {"family": "Wang", "given": "Yunzhang", "initials": "Y"}, {"family": "Mishra", "given": "Pashupati Prasad", "initials": "PP"}, {"family": "Colins", "given": "Olivier F", "initials": "OF", "orcid": "0000-0001-9532-2544", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec63c561cea24f0bb78e8b92c6c5a82d.json"}}, {"family": "Corcoran", "given": "David L", "initials": "DL", "orcid": "0000-0001-7460-9247", "researcher": {"href": "https://publications.scilifelab.se/researcher/30eb6bb04e7846b58c7fa33a75cf3a51.json"}}, {"family": "Poulton", "given": "Richie", "initials": "R", "orcid": "0000-0002-1052-4583", "researcher": {"href": "https://publications.scilifelab.se/researcher/8f61fd90a9804126b169485da8cf65a1.json"}}, {"family": "Mill", "given": "Jonathan", "initials": "J", "orcid": "0000-0003-1115-3224", "researcher": {"href": "https://publications.scilifelab.se/researcher/480aff443bbd4605b3dd65736c08932e.json"}}, {"family": "Hannon", "given": "Eilis", "initials": "E", "orcid": "0000-0001-6840-072X", "researcher": {"href": "https://publications.scilifelab.se/researcher/2e059e0c152744da96bbfa7a26b4741f.json"}}, {"family": "Arseneault", "given": "Louise", "initials": "L", "orcid": "0000-0002-2938-2191", "researcher": {"href": "https://publications.scilifelab.se/researcher/0664e4afe7de4354924a1b39b87cf570.json"}}, {"family": "Korhonen", "given": "Tellervo", "initials": "T"}, {"family": "Vuoksimaa", "given": "Eero", "initials": "E"}, {"family": "Felix", "given": "Janine F", "initials": "JF", "orcid": "0000-0002-9801-5774", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a4482378cb24a9f832729f7004a41bf.json"}}, {"family": "Bakermans-Kranenburg", "given": "Marian J", "initials": "MJ", "orcid": "0000-0001-7763-0711", "researcher": {"href": "https://publications.scilifelab.se/researcher/11233b4bc1be47ca8248ac062f859e81.json"}}, {"family": "Campbell", "given": "Archie", "initials": "A", "orcid": "0000-0003-0198-5078", "researcher": {"href": "https://publications.scilifelab.se/researcher/89d6b9cb975246e5aa97c60035e2fdcc.json"}}, {"family": "Czamara", "given": "Darina", "initials": "D", "orcid": "0000-0001-7381-904X", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e9a8a7d605d4f63a311fc8a211422a6.json"}}, {"family": "Binder", "given": "Elisabeth", "initials": "E", "orcid": "0000-0001-7088-6618", "researcher": {"href": "https://publications.scilifelab.se/researcher/0cfb2bf09e9d49ad922bb5c3c252c716.json"}}, {"family": "Corpeleijn", "given": "Eva", "initials": "E"}, {"family": "Gonzalez", "given": "Juan R", "initials": "JR", "orcid": "0000-0003-3267-2146", "researcher": {"href": "https://publications.scilifelab.se/researcher/0898265a25ee4d14b875e14d7ff09479.json"}}, {"family": "Grazuleviciene", "given": "Regina", "initials": "R", "orcid": "0000-0002-0210-8053", "researcher": {"href": "https://publications.scilifelab.se/researcher/223bfb218f2e49bf999bd1521369ba83.json"}}, {"family": "Gutzkow", "given": "Kristine B", "initials": "KB"}, {"family": "Evandt", "given": "Jorunn", "initials": "J"}, {"family": "Vafeiadi", "given": "Marina", "initials": "M", "orcid": "0000-0002-6143-7172", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb8527777ad8409c89344e0b455365e7.json"}}, {"family": "Klein", "given": "Marieke", "initials": "M", "orcid": "0000-0001-8784-5679", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7481a7b70b6411b98c77e27e0de9b2f.json"}}, {"family": "van der Meer", "given": "Dennis", "initials": "D", "orcid": "0000-0002-0466-386X", "researcher": {"href": "https://publications.scilifelab.se/researcher/77320b76a77b4045af6228ee5258f41e.json"}}, {"family": "Ligthart", "given": "Lannie", "initials": "L", "orcid": "0000-0002-6570-3319", "researcher": {"href": "https://publications.scilifelab.se/researcher/c352ff3a891d4eb5bfe9c0260238ef79.json"}}, {"family": "BIOS Consortium", "given": "", "initials": ""}, {"family": "Kluft", "given": "Cornelis", "initials": "C"}, {"family": "Davies", "given": "Gareth E", "initials": "GE"}, {"family": "Hakulinen", "given": "Christian", "initials": "C"}, {"family": "Keltikangas-J\u00e4rvinen", "given": "Liisa", "initials": "L"}, {"family": "Franke", "given": "Barbara", "initials": "B", "orcid": "0000-0003-4375-6572", "researcher": {"href": "https://publications.scilifelab.se/researcher/105f0131cfc34a668ed840e622e4f902.json"}}, {"family": "Freitag", "given": "Christine M", "initials": "CM", "orcid": "0000-0001-9676-4782", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d9f9f97c28b4919b09be5c1292a806b.json"}}, {"family": "Konrad", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-9039-2615", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b063642dc3d425a8037e2cc0ff3a067.json"}}, {"family": "Hervas", "given": "Amaia", "initials": "A"}, {"family": "Fern\u00e1ndez-Rivas", "given": "Aranzazu", "initials": "A"}, {"family": "Vetro", "given": "Agnes", "initials": "A"}, {"family": "Raitakari", "given": "Olli", "initials": "O"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T", "orcid": "0000-0002-2555-4427", "researcher": {"href": "https://publications.scilifelab.se/researcher/03ed59707dae4c8fb9e63ac1f7c398e3.json"}}, {"family": "Vermeiren", "given": "Robert", "initials": "R"}, {"family": "Strandberg", "given": "Timo", "initials": "T"}, {"family": "R\u00e4ikk\u00f6nen", "given": "Katri", "initials": "K"}, {"family": "Snieder", "given": "Harold", "initials": "H", "orcid": "0000-0003-1949-2298", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9276827839a4f3cb50dcaa2ad4708a5.json"}}, {"family": "Witt", "given": "Stephanie H", "initials": "SH", "orcid": "0000-0002-1571-1468", "researcher": {"href": "https://publications.scilifelab.se/researcher/88c8da59196f4adb8a57509e5e9e85ef.json"}}, {"family": "Deuschle", "given": "Michael", "initials": "M"}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "H\u00e4gg", "given": "Sara", "initials": "S", "orcid": "0000-0002-2452-1500", "researcher": {"href": "https://publications.scilifelab.se/researcher/e1d010dfe5d84a33b6a6c7ec815ca3dc.json"}}, {"family": "Sunyer", "given": "Jordi", "initials": "J"}, {"family": "Franke", "given": "Lude", "initials": "L"}, {"family": "Kaprio", "given": "Jaakko", "initials": "J", "orcid": "0000-0002-3716-2455", "researcher": {"href": "https://publications.scilifelab.se/researcher/814d362333844b72a70cba9ebcf61e6f.json"}}, {"family": "Ollikainen", "given": "Miina", "initials": "M", "orcid": "0000-0003-3661-7400", "researcher": {"href": "https://publications.scilifelab.se/researcher/0cda8a90eedd4d179a230bc5377d3989.json"}}, {"family": "Moffitt", "given": "Terrie E", "initials": "TE"}, {"family": "Tiemeier", "given": "Henning", "initials": "H", "orcid": "0000-0002-4395-1397", "researcher": {"href": "https://publications.scilifelab.se/researcher/73e05bd74af344ba8d963463f49bb242.json"}}, {"family": "van IJzendoorn", "given": "Marinus H", "initials": "MH", "orcid": "0000-0003-1144-454X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8ae6deb331f4c52b835210f42c65abe.json"}}, {"family": "Relton", "given": "Caroline", "initials": "C"}, {"family": "Vrijheid", "given": "Martine", "initials": "M", "orcid": "0000-0002-7090-1758", "researcher": {"href": "https://publications.scilifelab.se/researcher/ccf0ebb5d1664b99bbb460c194d2f361.json"}}, {"family": "Sebert", "given": "Sylvain", "initials": "S", "orcid": "0000-0001-6681-6983", "researcher": {"href": "https://publications.scilifelab.se/researcher/c007e85f69d4421bb6cf76dc52a01eb8.json"}}, {"family": "Jarvelin", "given": "Marjo-Riitta", "initials": "M"}, {"family": "Caspi", "given": "Avshalom", "initials": "A"}, {"family": "Evans", "given": "Kathryn L", "initials": "KL", "orcid": "0000-0002-7884-5877", "researcher": {"href": "https://publications.scilifelab.se/researcher/2985078354be4ab19f96d66fa9b2c8cc.json"}}, {"family": "McIntosh", "given": "Andrew M", "initials": "AM", "orcid": "0000-0002-0198-4588", "researcher": {"href": "https://publications.scilifelab.se/researcher/cbac1cee97084746b97442ec39efe91b.json"}}, {"family": "Bartels", "given": "Meike", "initials": "M", "orcid": "0000-0002-9667-7555", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a91c095e993411b99e81e21f40d8597.json"}}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}], "type": "journal article", "published": "2021-06-00", "journal": {"title": "Mol. Psychiatry", "issn": "1476-5578", "issn-l": "1359-4184", "volume": "26", "issue": "6", "pages": "2148-2162"}, "abstract": "DNA methylation profiles of aggressive behavior may capture lifetime cumulative effects of genetic, stochastic, and environmental influences associated with aggression. Here, we report the first large meta-analysis of epigenome-wide association studies (EWAS) of aggressive behavior (N = 15,324 participants). In peripheral blood samples of 14,434 participants from 18 cohorts with mean ages ranging from 7 to 68 years, 13 methylation sites were significantly associated with aggression (alpha = 1.2 \u00d7 10-7; Bonferroni correction). In cord blood samples of 2425 children from five cohorts with aggression assessed at mean ages ranging from 4 to 7 years, 83% of these sites showed the same direction of association with childhood aggression (r = 0.74, p = 0.006) but no epigenome-wide significant sites were found. Top-sites (48 at a false discovery rate of 5% in the peripheral blood meta-analysis or in a combined meta-analysis of peripheral blood and cord blood) have been associated with chemical exposures, smoking, cognition, metabolic traits, and genetic variation (mQTLs). Three genes whose expression levels were associated with top-sites were previously linked to schizophrenia and general risk tolerance. At six CpGs, DNA methylation variation in blood mirrors variation in the brain. On average 44% (range = 3-82%) of the aggression-methylation association was explained by current and former smoking and BMI. These findings point at loci that are sensitive to chemical exposures with potential implications for neuronal functions. We hope these results to be a starting point for studies leading to applications as peripheral biomarkers and to reveal causal relationships with aggression and related traits.", "doi": "10.1038/s41380-020-00987-x", "pmid": "33420481", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41380-020-00987-x"}, {"db": "pmc", "key": "PMC8263810"}, {"db": "mid", "key": "EMS114691"}], "notes": [], "created": "2021-01-14T11:58:55.708Z", "modified": "2021-12-07T13:43:00.672Z"}, {"entity": "publication", "iuid": "48f74c2afc0b4af8befb22016e4d7b0c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/48f74c2afc0b4af8befb22016e4d7b0c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/48f74c2afc0b4af8befb22016e4d7b0c"}}, "title": "Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.", "authors": [{"family": "Lagou", "given": "Vasiliki", "initials": "V"}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R"}, {"family": "Hottenga", "given": "Jouke- Jan", "initials": "JJ", "orcid": "0000-0002-5668-2368", "researcher": {"href": "https://publications.scilifelab.se/researcher/75553b594b1f4255833de730f7f7d170.json"}}, {"family": "Grallert", "given": "Harald", "initials": "H"}, {"family": "Perry", "given": "John R B", "initials": "JRB"}, {"family": "Bouatia-Naji", "given": "Nabila", "initials": "N", "orcid": "0000-0001-5424-2134", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4f7af2cb2b7464abddf05692a292fc3.json"}}, {"family": "Marullo", "given": "Letizia", "initials": "L"}, {"family": "Rybin", "given": "Denis", "initials": "D"}, {"family": "Jansen", "given": "Rick", "initials": "R", "orcid": "0000-0002-3333-6737", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcd392c9b9784ebe8c8730e05463377a.json"}}, {"family": "Min", "given": "Josine L", "initials": "JL", "orcid": "0000-0003-4456-9824", "researcher": {"href": "https://publications.scilifelab.se/researcher/5896cbc0cb8d427a954b194839adda52.json"}}, {"family": "Dimas", "given": "Antigone S", "initials": "AS"}, {"family": "Ulrich", "given": "Anna", "initials": "A"}, {"family": "Zudina", "given": "Liudmila", "initials": "L"}, {"family": "G\u00e5din", "given": "Jesper R", "initials": "JR"}, {"family": "Jiang", "given": "Longda", "initials": "L"}, {"family": "Faggian", "given": "Alessia", "initials": "A", "orcid": "0000-0002-3799-9722", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4f320f96474406c82fef88f1f78dd23.json"}}, {"family": "Bonnefond", "given": "Am\u00e9lie", "initials": "A", "orcid": "0000-0001-9976-3005", "researcher": {"href": "https://publications.scilifelab.se/researcher/ea1984308c1544ba969d4df73971de69.json"}}, {"family": "Fadista", "given": "Joao", "initials": "J"}, {"family": "Stathopoulou", "given": "Maria G", "initials": "MG"}, {"family": "Isaacs", "given": "Aaron", "initials": "A", "orcid": "0000-0001-5037-4834", "researcher": {"href": "https://publications.scilifelab.se/researcher/38ebe49e62404f48bcb979d9671883e7.json"}}, {"family": "Willems", "given": "Sara M", "initials": "SM", "orcid": "0000-0002-6803-3007", "researcher": {"href": "https://publications.scilifelab.se/researcher/307c8a9b3ab54ab586c7b000c110e76b.json"}}, {"family": "Navarro", "given": "Pau", "initials": "P", "orcid": "0000-0001-5576-8584", "researcher": {"href": "https://publications.scilifelab.se/researcher/9420946aedec4a7b8925cc05c0a9abeb.json"}}, {"family": "Tanaka", "given": "Toshiko", "initials": "T"}, {"family": "Jackson", "given": "Anne U", "initials": "AU", "orcid": "0000-0002-9672-2547", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8230afabb0b4dcda8dc58ead349aea0.json"}}, {"family": "Montasser", "given": "May E", "initials": "ME"}, {"family": "O'Connell", "given": "Jeff R", "initials": "JR"}, {"family": 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"Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Vitart", "given": "Veronique", "initials": "V", "orcid": "0000-0002-4991-3797", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ca9835a494849af861673bf7989b523.json"}}, {"family": "Kaprio", "given": "Jaakko", "initials": "J", "orcid": "0000-0002-3716-2455", "researcher": {"href": "https://publications.scilifelab.se/researcher/814d362333844b72a70cba9ebcf61e6f.json"}}, {"family": "Visvikis-Siest", "given": "Sophie", "initials": "S", "orcid": "0000-0001-8104-8425", "researcher": {"href": "https://publications.scilifelab.se/researcher/c289bef4e6a44aa3a26755f7ed69e9e3.json"}}, {"family": "Balkau", "given": "Beverley", "initials": "B"}, {"family": "Altshuler", "given": "David", "initials": "D", "orcid": "0000-0002-7250-4107", "researcher": {"href": "https://publications.scilifelab.se/researcher/79e8e052a1f7417eadb0c85da8d2e0ba.json"}}, {"family": "Rudan", "given": "Igor", "initials": "I", "orcid": "0000-0001-6993-6884", "researcher": {"href": "https://publications.scilifelab.se/researcher/d50e1ca836e841f8a7a748ae93b59d75.json"}}, {"family": "Stumvoll", "given": "Michael", "initials": "M"}, {"family": "Campbell", "given": "Harry", "initials": "H"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM", "orcid": "0000-0002-2374-9204", "researcher": {"href": "https://publications.scilifelab.se/researcher/354ccf94e95f40da96e61c89a0a60adb.json"}}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Illig", "given": "Thomas", "initials": "T"}, {"family": "Ferrucci", "given": "Luigi", "initials": "L"}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Pramstaller", "given": "Peter P", "initials": "PP", "orcid": "0000-0002-9831-8302", "researcher": {"href": "https://publications.scilifelab.se/researcher/02acd0fde415409d89da96014b493c84.json"}}, {"family": "Boehnke", "given": "Michael", "initials": "M", "orcid": "0000-0002-6442-7754", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8cb72bdcea4492199a1b9d8ac406ac7.json"}}, {"family": "Frayling", "given": "Timothy M", "initials": "TM", "orcid": "0000-0001-8362-2603", "researcher": {"href": "https://publications.scilifelab.se/researcher/9722f7f6f1d546ebb8deaddfc21cdb10.json"}}, {"family": "Shuldiner", "given": "Alan R", "initials": "AR"}, {"family": "Peyser", "given": "Patricia A", "initials": "PA", "orcid": "0000-0002-9717-8459", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ceeb9094357401e8a8702cb3dc53493.json"}}, {"family": "Kardia", "given": "Sharon L R", "initials": "SLR"}, {"family": "Palmer", "given": "Lyle J", "initials": "LJ"}, {"family": "Penninx", "given": "Brenda W", "initials": "BW"}, {"family": "Meneton", "given": "Pierre", "initials": "P"}, {"family": "Harris", "given": "Tamara B", "initials": "TB"}, {"family": "Navis", "given": "Gerjan", "initials": "G"}, {"family": "Harst", "given": "Pim van der", "initials": "PV", "orcid": "0000-0002-2713-686X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a710eb0e12344e8fb5083599c95a1b2e.json"}}, {"family": "Smith", "given": "George Davey", "initials": "GD", "orcid": "0000-0002-1407-8314", "researcher": {"href": "https://publications.scilifelab.se/researcher/0790d5850377432087ad3900af0044e0.json"}}, {"family": "Forouhi", "given": "Nita G", "initials": "NG", "orcid": "0000-0002-5041-248X", "researcher": {"href": "https://publications.scilifelab.se/researcher/fb6627349ae8472fb738cbe8ae01c838.json"}}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications.scilifelab.se/researcher/e5b6c24c302d42828806076ded81afe1.json"}}, {"family": "Salomaa", "given": "Veikko", "initials": "V", "orcid": "0000-0001-7563-5324", "researcher": {"href": "https://publications.scilifelab.se/researcher/f2396c578c254e39b66538c3033c9ce9.json"}}, {"family": "Soranzo", "given": "Nicole", "initials": "N", "orcid": "0000-0003-1095-3852", "researcher": {"href": "https://publications.scilifelab.se/researcher/da75fa9ee333474fad5aadcb99a63d8f.json"}}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}, {"family": "Groop", "given": "Leif", "initials": "L", "orcid": "0000-0002-0187-3263", "researcher": {"href": "https://publications.scilifelab.se/researcher/8e1c35ae04cd4e9e9525fbc844d15e14.json"}}, {"family": "Tuomi", "given": "Tiinamaija", "initials": "T", "orcid": "0000-0002-8306-6202", "researcher": {"href": "https://publications.scilifelab.se/researcher/19f5ce9936ca454c85f0af966acac5c0.json"}}, {"family": "Hofman", "given": "Albert", "initials": "A"}, {"family": "Munroe", "given": "Patricia B", "initials": "PB", "orcid": "0000-0002-4176-2947", "researcher": {"href": "https://publications.scilifelab.se/researcher/657544a7f921459f926aae5cd0e2065c.json"}}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V", "orcid": "0000-0001-5696-0084", "researcher": {"href": "https://publications.scilifelab.se/researcher/d18327939c1541acba054b2340ac174f.json"}}, {"family": "Siscovick", "given": "David S", "initials": "DS"}, {"family": "Watkins", "given": "Hugh", "initials": "H"}, {"family": "Lecoeur", "given": "Cecile", "initials": "C", "orcid": "0000-0003-0075-6417", "researcher": {"href": "https://publications.scilifelab.se/researcher/f6abf12d60c24032a1c2b315904b0721.json"}}, {"family": "Vollenweider", "given": "Peter", "initials": "P"}, {"family": "Franco-Cereceda", "given": "Anders", "initials": "A"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Jarvelin", "given": "Marjo-Riitta", "initials": "MR", "orcid": "0000-0002-2149-0630", "researcher": {"href": "https://publications.scilifelab.se/researcher/a7d00b649d284101b0501e2024fb651a.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications.scilifelab.se/researcher/679465193fba4887a68e2aec34ccfd8e.json"}}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "Nicholson", "given": "George", "initials": "G"}, {"family": "Karpe", "given": "Fredrik", "initials": "F"}, {"family": "Dermitzakis", "given": "Emmanouil T", "initials": "ET", "orcid": "0000-0002-9302-6490", "researcher": {"href": "https://publications.scilifelab.se/researcher/3560d19929e94af1bb858a54e29a10cc.json"}}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM", "orcid": "0000-0002-4903-9374", "researcher": {"href": "https://publications.scilifelab.se/researcher/822d2f2a99814a7498f19976ed6381ef.json"}}, {"family": "McCarthy", "given": "Mark I", "initials": "MI"}, {"family": "Froguel", "given": "Philippe", "initials": "P", "orcid": "0000-0003-2972-0784", "researcher": {"href": "https://publications.scilifelab.se/researcher/34edc6a0f1b343bb8a2abd439c2ee77f.json"}}, {"family": "Kaakinen", "given": "Marika A", "initials": "MA", "orcid": "0000-0002-9228-0462", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e9f40717fdd4ce29b148bc569134451.json"}}, {"family": "Lyssenko", "given": "Valeriya", "initials": "V"}, {"family": "Watanabe", "given": "Richard M", "initials": "RM", "orcid": "0000-0003-1015-0531", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4336f8845ac40dfb77ef0ea1a97bbd6.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E", "orcid": "0000-0003-2256-6972", "researcher": {"href": "https://publications.scilifelab.se/researcher/689bc741ea6547d18de7080c84d0193e.json"}}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Dupuis", "given": "Jos\u00e9e", "initials": "J", "orcid": "0000-0003-2871-3603", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9edfafda7364890866115f5343a9583.json"}}, {"family": "Barroso", "given": "In\u00eas", "initials": "I", "orcid": "0000-0001-5800-4520", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2dc6be9aa194bdc9a161e551d5e6747.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Prokopenko", "given": "Inga", "initials": "I"}, {"family": "Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)", "given": "", "initials": ""}], "type": "journal article", "published": "2021-01-05", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "12", "issue": "1", "pages": "24", "issn-l": "2041-1723"}, "abstract": "Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.", "doi": "10.1038/s41467-020-19366-9", "pmid": "33402679", "labels": {"NGI Stockholm (Genomics Applications)": "Service", "National Genomics Infrastructure": null, "NGI Stockholm (Genomics Production)": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-020-19366-9"}, {"db": "pmc", "key": "PMC7785747"}], "notes": [], "created": "2021-01-08T16:30:26.062Z", "modified": "2021-11-10T12:27:48.827Z"}, {"entity": "publication", "iuid": "a67f74b1dcdf445da4ec370ee216c8d6", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a67f74b1dcdf445da4ec370ee216c8d6.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a67f74b1dcdf445da4ec370ee216c8d6"}}, "title": "Genetic and environmental influences on human height from infancy through adulthood at different levels of parental education.", "authors": [{"family": "Jelenkovic", "given": "Aline", "initials": "A"}, {"family": "Sund", "given": "Reijo", "initials": "R", "orcid": "0000-0002-6268-8117", "researcher": {"href": "https://publications.scilifelab.se/researcher/27f81bab545a4b158866a08fe5263e08.json"}}, {"family": "Yokoyama", "given": "Yoshie", "initials": "Y"}, {"family": "Latvala", "given": "Antti", "initials": "A", "orcid": "0000-0001-5695-117X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e675261bb7354ca782cc267262fbdaba.json"}}, {"family": "Sugawara", "given": "Masumi", "initials": "M"}, {"family": "Tanaka", "given": "Mami", "initials": "M"}, {"family": "Matsumoto", "given": "Satoko", "initials": "S"}, {"family": "Freitas", "given": "Duarte L", "initials": "DL"}, {"family": "Maia", "given": "Jos\u00e9 Antonio", "initials": "JA"}, {"family": "Knafo-Noam", "given": "Ariel", "initials": "A"}, {"family": "Mankuta", "given": "David", "initials": "D"}, {"family": "Abramson", "given": "Lior", "initials": "L"}, {"family": "Ji", "given": "Fuling", "initials": "F"}, {"family": "Ning", "given": "Feng", "initials": "F"}, {"family": "Pang", "given": "Zengchang", "initials": "Z"}, {"family": "Rebato", "given": "Esther", "initials": "E"}, {"family": "Saudino", "given": "Kimberly J", "initials": "KJ"}, {"family": "Cutler", "given": "Tessa L", "initials": "TL"}, {"family": "Hopper", "given": "John L", "initials": "JL"}, {"family": "Ullemar", "given": "Vilhelmina", "initials": "V"}, {"family": "Almqvist", "given": "Catarina", "initials": "C"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "Cozen", "given": "Wendy", "initials": "W"}, {"family": "Hwang", "given": "Amie E", "initials": "AE"}, {"family": "Mack", "given": "Thomas M", "initials": "TM"}, {"family": "Nelson", "given": "Tracy L", "initials": "TL"}, {"family": "Whitfield", "given": "Keith E", "initials": "KE"}, {"family": "Sung", "given": "Joohon", "initials": "J"}, {"family": "Kim", "given": "Jina", "initials": "J", "orcid": "0000-0003-1684-4219", "researcher": {"href": "https://publications.scilifelab.se/researcher/869e611833bc4f6aab2f47f540f89581.json"}}, {"family": "Lee", "given": "Jooyeon", "initials": "J", "orcid": "0000-0001-5220-0950", "researcher": {"href": "https://publications.scilifelab.se/researcher/b5e4b2f4f3b34e41a3901c90f6dc0ec2.json"}}, {"family": "Lee", "given": "Sooji", "initials": "S"}, {"family": "Llewellyn", "given": "Clare H", "initials": "CH", "orcid": "0000-0002-0066-2827", "researcher": {"href": "https://publications.scilifelab.se/researcher/97213af3e4704e13b608af74637dbb2e.json"}}, {"family": "Fisher", "given": "Abigail", "initials": "A"}, {"family": "Medda", "given": "Emanuela", "initials": "E"}, {"family": "Nistic\u00f2", "given": "Lorenza", "initials": "L", "orcid": "0000-0003-1805-6240", "researcher": {"href": "https://publications.scilifelab.se/researcher/c6a2e9c1a6a34419b4661afce3e01d3e.json"}}, {"family": "Toccaceli", "given": "Virgilia", "initials": "V"}, {"family": "Baker", "given": "Laura A", "initials": "LA"}, {"family": "Tuvblad", "given": "Catherine", "initials": "C"}, {"family": "Corley", "given": "Robin P", "initials": "RP"}, {"family": "Huibregtse", "given": "Brooke M", "initials": "BM", "orcid": "0000-0003-0977-7249", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9df70acb87f443eb6da650b151a679c.json"}}, {"family": "Derom", "given": "Catherine A", "initials": "CA"}, {"family": "Vlietinck", "given": "Robert F", "initials": "RF"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications.scilifelab.se/researcher/e5b6c24c302d42828806076ded81afe1.json"}}, {"family": "Burt", "given": "S Alexandra", "initials": "SA"}, {"family": "Klump", "given": "Kelly L", "initials": "KL"}, {"family": "Silberg", "given": "Judy L", "initials": "JL"}, {"family": "Maes", "given": "Hermine H", "initials": "HH"}, {"family": "Krueger", "given": "Robert F", "initials": "RF"}, {"family": "McGue", "given": "Matt", "initials": "M"}, {"family": "Pahlen", "given": "Shandell", "initials": "S"}, {"family": "Gatz", "given": "Margaret", "initials": "M"}, {"family": "Butler", "given": "David A", "initials": "DA"}, {"family": "Harris", "given": "Jennifer R", "initials": "JR"}, {"family": "Brandt", "given": "Ingunn", "initials": "I"}, {"family": "Nilsen", "given": "Thomas S", "initials": "TS"}, {"family": "Harden", "given": "K Paige", "initials": "KP"}, {"family": "Tucker-Drob", "given": "Elliot M", "initials": "EM"}, {"family": "Franz", "given": "Carol E", "initials": "CE", "orcid": "0000-0002-8987-1755", "researcher": {"href": "https://publications.scilifelab.se/researcher/4f24c335b7f544328bca9e9e73b8560e.json"}}, {"family": "Kremen", "given": "William S", "initials": "WS"}, {"family": "Lyons", "given": "Michael J", "initials": "MJ"}, {"family": "Lichtenstein", "given": "Paul", "initials": "P", "orcid": "0000-0003-3037-5287", "researcher": {"href": "https://publications.scilifelab.se/researcher/4db67c51837b4cdfa18cacbc3fca1173.json"}}, {"family": "Bartels", "given": "Meike", "initials": "M", "orcid": "0000-0002-9667-7555", "researcher": {"href": "https://publications.scilifelab.se/researcher/8a91c095e993411b99e81e21f40d8597.json"}}, {"family": "Beijsterveldt", "given": "Catharina E M van", "initials": "CEMV", "orcid": "0000-0002-6617-4201", "researcher": {"href": "https://publications.scilifelab.se/researcher/6c3073fc4d1e4454bfc4bc7aad11b357.json"}}, {"family": "Willemsen", "given": "Gonneke", "initials": "G"}, {"family": "\u00d6ncel", "given": "Sevgi Y", "initials": "SY"}, {"family": "Aliev", "given": "Fazil", "initials": "F", "orcid": "0000-0001-8357-4699", "researcher": {"href": "https://publications.scilifelab.se/researcher/85556629452a4054bf7228b5f7049811.json"}}, {"family": "Jeong", "given": "Hoe-Uk", "initials": "HU"}, {"family": "Hur", "given": "Yoon-Mi", "initials": "YM"}, {"family": "Turkheimer", "given": "Eric", "initials": "E"}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}, {"family": "S\u00f8rensen", "given": "Thorkild I A", "initials": "TIA", "orcid": "0000-0003-4821-430X", "researcher": {"href": "https://publications.scilifelab.se/researcher/3495a648342a491d9105817cc30d5d56.json"}}, {"family": "Kaprio", "given": "Jaakko", "initials": "J", "orcid": "0000-0002-3716-2455", "researcher": {"href": "https://publications.scilifelab.se/researcher/814d362333844b72a70cba9ebcf61e6f.json"}}, {"family": "Silventoinen", "given": "Karri", "initials": "K"}], "type": "journal article", "published": "2020-05-14", "journal": {"title": "Sci Rep", "issn": "2045-2322", "volume": "10", "issue": "1", "pages": "7974", "issn-l": "2045-2322"}, "abstract": "Genetic factors explain a major proportion of human height variation, but differences in mean stature have also been found between socio-economic categories suggesting a possible effect of environment. By utilizing a classical twin design which allows decomposing the variation of height into genetic and environmental components, we tested the hypothesis that environmental variation in height is greater in offspring of lower educated parents. Twin data from 29 cohorts including 65,978 complete twin pairs with information on height at ages 1 to 69 years and on parental education were pooled allowing the analyses at different ages and in three geographic-cultural regions (Europe, North America and Australia, and East Asia). Parental education mostly showed a positive association with offspring height, with significant associations in mid-childhood and from adolescence onwards. In variance decomposition modeling, the genetic and environmental variance components of height did not show a consistent relation to parental education. A random-effects meta-regression analysis of the aggregate-level data showed a trend towards greater shared environmental variation of height in low parental education families. In conclusion, in our very large dataset from twin cohorts around the globe, these results provide only weak evidence for the study hypothesis.", "doi": "10.1038/s41598-020-64883-8", "pmid": "32409744", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41598-020-64883-8"}, {"db": "pmc", "key": "PMC7224277"}], "notes": [], "created": "2020-05-27T13:29:27.487Z", "modified": "2021-11-10T12:51:04.364Z"}, {"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": 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{"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"}]}