{"entity": "researcher", "timestamp": "2026-07-17T08:50:16.192Z", "family": "Lu", "given": "Yi", "initials": "Y", "orcid": "0000-0001-9933-3654", "affiliations": ["Department of Medical Epidemiology and Biostatistics and the Swedish Twin Registry, Karolinska Institutet, Stockholm, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/4a73eafe0b0e4221a77b96800883413d.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/4a73eafe0b0e4221a77b96800883413d"}}, "publications": [{"entity": "publication", "iuid": "b5cadf33662a43ba963d6e97bfa96d3a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b5cadf33662a43ba963d6e97bfa96d3a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b5cadf33662a43ba963d6e97bfa96d3a"}}, "title": "Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.", "authors": [{"family": "K\u00e4mpe", "given": "Anders", "initials": "A", "orcid": "0000-0002-1829-3855", "researcher": {"href": "https://publications.scilifelab.se/researcher/0785e17b57384962a0ff9bc7ecaa80c8.json"}}, {"family": "Gudmundsson", "given": "Sanna", "initials": "S"}, {"family": "Walsh", "given": "Colum P", "initials": "CP"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications.scilifelab.se/researcher/76265c54961046e99bdb0439f9ae1d34.json"}}, {"family": "Clareborn", "given": "Anna", "initials": "A"}, {"family": "Ameur", "given": "Adam", "initials": "A", "orcid": "0000-0001-6085-6749", "researcher": {"href": "https://publications.scilifelab.se/researcher/e960811513664a78b2804a00ee70f7c3.json"}}, {"family": "Edsj\u00f6", "given": "Anders", "initials": "A", "orcid": "0000-0001-8783-8284", "researcher": {"href": "https://publications.scilifelab.se/researcher/6fae25d88855440194b9bb11b3d18bf8.json"}}, {"family": "Fioretos", "given": "Thoas", "initials": "T"}, {"family": "Ehrencrona", "given": "Hans", "initials": "H", "orcid": "0000-0002-5589-3622", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b89608a8ce941c3b9911630b4ff9720.json"}}, {"family": "Eriksson", "given": "Daniel", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}, {"family": "Fall", "given": "Tove", "initials": "T", "orcid": "0000-0003-2071-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ed3f066719f43b291743a8bdaf3d2a0.json"}}, {"family": "Franks", "given": "Paul W", "initials": "PW", "orcid": "0000-0002-0520-7604", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ebbf40c0f7e49dd8c75a2b6cbf27276.json"}}, {"family": "Gyllensten", "given": "Ulf", "initials": "U", "orcid": "0000-0002-6316-3355", "researcher": {"href": 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"initials": "A"}, {"family": "Wirta", "given": "Valtteri", "initials": "V", "orcid": "0000-0003-3811-5439", "researcher": {"href": "https://publications.scilifelab.se/researcher/cba024b2e3c347f6b981922d984ad2d6.json"}}, {"family": "\u00d6stling", "given": "P\u00e4ivi", "initials": "P"}, {"family": "Jacobsson", "given": "Bo", "initials": "B", "orcid": "0000-0001-5079-2374", "researcher": {"href": "https://publications.scilifelab.se/researcher/fd6968816ded4a50b1029ee3f4afbeed.json"}}, {"family": "Sj\u00f6blom", "given": "Tobias", "initials": "T", "orcid": "0000-0001-6668-4140", "researcher": {"href": "https://publications.scilifelab.se/researcher/909f00a5bf6e465f9ff560b12bcd863a.json"}}, {"family": "Persson", "given": "Bengt", "initials": "B"}, {"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications.scilifelab.se/researcher/b570128e641140fb964ae3241414f510.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications.scilifelab.se/researcher/07f3e6152da043d38c7a81974fcf8c23.json"}}, {"family": "Lappalainen", "given": "Tuuli", "initials": "T"}], "type": "letter", "published": "2025-06-00", "journal": {"title": "Nat. Med.", "issn": "1546-170X", "issn-l": "1078-8956", "volume": "31", "issue": "6", "pages": "1730-1732"}, "abstract": null, "doi": "10.1038/s41591-025-03631-9", "pmid": "40186080", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "National Genomics Infrastructure": "Collaborative", "NGI Uppsala (Uppsala Genome Center)": "Collaborative", "NGI Long read": "Collaborative", "Clinical Genomics Lund": "Service", "Bioinformatics (NBIS)": "Collaborative", "Bioinformatics Support, Infrastructure and Training": "Collaborative"}, "xrefs": [{"db": "pii", "key": "10.1038/s41591-025-03631-9"}], "notes": [], "created": "2025-07-08T13:55:07.435Z", "modified": "2025-11-21T13:21:42.346Z"}, {"entity": "publication", "iuid": "951fe1c92cc543a6a9e5e7e77d717e43", "links": {"self": {"href": "https://publications.scilifelab.se/publication/951fe1c92cc543a6a9e5e7e77d717e43.json"}, "display": {"href": "https://publications.scilifelab.se/publication/951fe1c92cc543a6a9e5e7e77d717e43"}}, "title": "Distinct biological signature and modifiable risk factors underlie the comorbidity between major depressive disorder and cardiovascular disease.", "authors": [{"family": "Bergstedt", "given": "Jacob", "initials": "J", "orcid": "0000-0002-9279-6936", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e8ca729357b421588628aa2eb06c2f8.json"}}, {"family": "Pasman", "given": "Jo\u00eblle A", "initials": "JA"}, {"family": "Ma", "given": "Ziyan", "initials": "Z", "orcid": "0000-0002-7514-7934", "researcher": {"href": "https://publications.scilifelab.se/researcher/2bbd5464ee38451ca03fcaad9c139880.json"}}, {"family": "Harder", "given": "Arvid", "initials": "A"}, {"family": "Yao", "given": "Shuyang", "initials": "S", "orcid": "0000-0001-9669-4470", "researcher": {"href": "https://publications.scilifelab.se/researcher/fcd036ee020e4622ad16d020bfcd7b38.json"}}, {"family": "Parker", "given": "Nadine", "initials": "N", "orcid": "0000-0002-8369-0152", "researcher": {"href": "https://publications.scilifelab.se/researcher/75b520fd4bc844bbbe2a69cbb7add972.json"}}, {"family": "Treur", "given": "Jorien L", "initials": "JL"}, {"family": "Smit", "given": "Dirk J A", "initials": "DJA", "orcid": "0000-0001-8301-8860", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe64f7980537495aba79c0eca978e95d.json"}}, {"family": "Frei", "given": "Oleksandr", "initials": "O", "orcid": "0000-0002-6427-2625", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c8807f848384cc6a2740d146982de78.json"}}, {"family": "Shadrin", "given": "Alexey A", "initials": "AA"}, {"family": "Meijsen", "given": "Joeri J", "initials": "JJ", "orcid": "0000-0002-4161-2199", "researcher": {"href": "https://publications.scilifelab.se/researcher/033902c73aa9444f849c849573020961.json"}}, {"family": "Shen", "given": "Qing", "initials": "Q"}, {"family": "H\u00e4gg", "given": "Sara", "initials": "S"}, {"family": "Tornvall", "given": "Per", "initials": "P"}, {"family": "Buil", "given": "Alfonso", "initials": "A", "orcid": "0000-0002-3097-1014", "researcher": {"href": "https://publications.scilifelab.se/researcher/84f11deb6b084f7fa476ea29893febd9.json"}}, {"family": "Werge", "given": "Thomas", "initials": "T", "orcid": "0000-0003-1829-0766", "researcher": {"href": "https://publications.scilifelab.se/researcher/89e727c9b54c4e23b9104fbc10b7b4e3.json"}}, {"family": "Hjerling-Leffler", "given": "Jens", "initials": "J", "orcid": "0000-0002-4539-1776", "researcher": {"href": "https://publications.scilifelab.se/researcher/51675f0ff9aa47d89d6b2eb84a14820a.json"}}, {"family": "Als", "given": "Thomas D", "initials": "TD", "orcid": "0000-0002-2963-1928", "researcher": {"href": "https://publications.scilifelab.se/researcher/099f1704a3c44f2882495f41a5124747.json"}}, {"family": "B\u00f8rglum", "given": "Anders D", "initials": "AD", "orcid": "0000-0001-8627-7219", "researcher": {"href": "https://publications.scilifelab.se/researcher/2165b6bc161443c5b670ef7d982b2e85.json"}}, {"family": "Lewis", "given": "Cathryn M", "initials": "CM", "orcid": "0000-0002-8249-8476", "researcher": {"href": "https://publications.scilifelab.se/researcher/72c89121dcde4b36a8d0e661ddc32b99.json"}}, {"family": "McIntosh", "given": "Andrew M", "initials": "AM", "orcid": "0000-0002-0198-4588", "researcher": {"href": "https://publications.scilifelab.se/researcher/cbac1cee97084746b97442ec39efe91b.json"}}, {"family": "Valdimarsd\u00f3ttir", "given": "Unnur A", "initials": "UA", "orcid": "0000-0001-5382-946X", "researcher": {"href": "https://publications.scilifelab.se/researcher/255c46fadd18490cbda4aef22474fbfb.json"}}, {"family": "Andreassen", "given": "Ole A", "initials": "OA", "orcid": "0000-0002-4461-3568", "researcher": {"href": "https://publications.scilifelab.se/researcher/56f384e8e2fd4a7383c7b26e88a828b2.json"}}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF", "orcid": "0000-0002-6619-873X", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d95de0b5ab14586980a6a13c8299346.json"}}, {"family": "Lu", "given": "Yi", "initials": "Y", "orcid": "0000-0001-9933-3654", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a73eafe0b0e4221a77b96800883413d.json"}}, {"family": "Fang", "given": "Fang", "initials": "F", "orcid": "0000-0002-3310-6456", "researcher": {"href": "https://publications.scilifelab.se/researcher/5ab8a681a053477b81f093cbd6232947.json"}}], "type": "journal article", "published": "2024-06-00", "journal": {"title": "Nat Cardiovasc Res", "issn": "2731-0590", "volume": "3", "issue": "6", "pages": "754-769", "issn-l": null}, "abstract": "Major depressive disorder (MDD) and cardiovascular disease (CVD) are often comorbid, resulting in excess morbidity and mortality. Here we show that CVDs share most of their genetic risk factors with MDD. Multivariate genome-wide association analysis of shared genetic liability between MDD and atherosclerotic CVD revealed seven loci and distinct patterns of tissue and brain cell-type enrichments, suggesting the involvement of the thalamus. Part of the genetic overlap was explained by shared inflammatory, metabolic and psychosocial or lifestyle risk factors. Our data indicated causal effects of genetic liability to MDD on CVD risk, but not from most CVDs to MDD, and showed that the causal effects were partly explained by metabolic and psychosocial or lifestyle factors. The distinct signature of MDD-atherosclerotic CVD comorbidity suggests an immunometabolic subtype of MDD that is more strongly associated with CVD than overall MDD. In summary, we identified biological mechanisms underlying MDD-CVD comorbidity and modifiable risk factors for prevention of CVD in individuals with MDD.", "doi": "10.1038/s44161-024-00488-y", "pmid": "39215135", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS2040135"}, {"db": "pmc", "key": "PMC11182748"}, {"db": "pii", "key": "10.1038/s44161-024-00488-y"}], "notes": [], "created": "2025-02-28T14:16:32.184Z", "modified": "2025-12-04T19:40:53.954Z"}, {"entity": "publication", "iuid": "9e09f16235bb47098747041ff56dd562", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9e09f16235bb47098747041ff56dd562.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9e09f16235bb47098747041ff56dd562"}}, "title": "Genetics of age-at-onset in major depression.", "authors": [{"family": "Harder", "given": "Arvid", "initials": "A"}, {"family": "Nguyen", "given": "Thuy-Dung", "initials": "TD"}, {"family": "Pasman", "given": "Jo\u00eblle A", "initials": "JA"}, {"family": "Mosing", "given": "Miriam A", "initials": "MA"}, {"family": "H\u00e4gg", "given": "Sara", "initials": "S", "orcid": "0000-0002-2452-1500", "researcher": {"href": "https://publications.scilifelab.se/researcher/e1d010dfe5d84a33b6a6c7ec815ca3dc.json"}}, {"family": "Lu", "given": "Yi", "initials": "Y", "orcid": "0000-0001-9933-3654", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a73eafe0b0e4221a77b96800883413d.json"}}], "type": "journal article", "published": "2022-03-26", "journal": {"title": "Transl Psychiatry", "issn": "2158-3188", "volume": "12", "issue": "1", "pages": "124", "issn-l": "2158-3188"}, "abstract": "Major depression (MD) is a complex, heterogeneous neuropsychiatric disorder. An early age at onset of major depression (AAO-MD) has been associated with more severe illness, psychosis, and suicidality. However, not much is known about what contributes to individual variation in this important clinical characteristic. This study sought to investigate the genetic components underlying AAO-MD. To investigate the genetics of AAO-MD, we conducted a genome-wide association meta-analysis of AAO-MD based on self-reported age of symptoms onset and self-reported age at first diagnosis from the UK Biobank cohort (total N = 94,154). We examined the genetic relationship between AAO-MD and five other psychiatric disorders. Polygenic risk scores were derived to examine their association with five psychiatric outcomes and AAO-MD in independent sub-samples. We found a small but significant SNP-heritability (~6%) for the AAO-MD phenotype. No SNP or gene reached SNP or gene-level significance. We found evidence that AAO-MD has genetic overlap with MD risk ([Formula: see text] = -0.49). Similarly, we found shared genetic risks between AAO-MD and autism-spectrum disorder, schizophrenia, bipolar disorder, and anorexia nervosa ([Formula: see text] range: -0.3 to -0.5). Polygenic risk scores for AAO-MD were associated with MD, schizophrenia, and bipolar disorder, and AAO-MD was in turn associated with polygenic risk scores derived from these disorders. Overall, our results indicate that AAO-MD is heritable, and there is an inverse genetic relationship between AAO-MD and both major depression and other psychiatric disorders, meaning that SNPs associated with earlier age at onset tend to increase the risk for psychiatric disorders. These findings suggest that the genetics of AAO-MD contribute to the shared genetic architecture observed between psychiatric disorders.", "doi": "10.1038/s41398-022-01888-z", "pmid": "35347114", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41398-022-01888-z"}, {"db": "pmc", "key": "PMC8960842"}], "notes": [], "created": "2022-11-09T15:47:48.263Z", "modified": "2024-01-16T13:48:37.225Z"}, {"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", 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"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": "a701a9709be141609a88a6452a664266", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a701a9709be141609a88a6452a664266.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a701a9709be141609a88a6452a664266"}}, "title": "Age-of-onset information helps identify 76 genetic variants associated with allergic disease.", "authors": [{"family": "Ferreira", "given": "Manuel A R", "initials": "MAR", "orcid": "0000-0001-9059-1825", "researcher": {"href": "https://publications.scilifelab.se/researcher/d27aef5015494b018b22352125c0225d.json"}}, {"family": "Vonk", "given": "Judith M", "initials": "JM", "orcid": "0000-0001-7531-4547", "researcher": {"href": "https://publications.scilifelab.se/researcher/e57100a0e5bc48c59590c043897a8bbd.json"}}, {"family": "Baurecht", "given": "Hansj\u00f6rg", "initials": "H", "orcid": "0000-0002-9265-5594", "researcher": {"href": "https://publications.scilifelab.se/researcher/65098dade92d4b87a691906582cc4fa9.json"}}, {"family": "Marenholz", "given": "Ingo", "initials": "I"}, {"family": "Tian", "given": "Chao", "initials": "C", "orcid": "0000-0001-7605-7175", "researcher": {"href": "https://publications.scilifelab.se/researcher/7dedf8f815b44a198f28485af5e69846.json"}}, {"family": "Hoffman", "given": "Joshua D", "initials": "JD", "orcid": "0000-0003-2823-1866", "researcher": {"href": "https://publications.scilifelab.se/researcher/a9f5e78834914d7699717e488827d616.json"}}, {"family": "Helmer", "given": "Quinta", "initials": "Q"}, {"family": "Tillander", "given": "Annika", "initials": "A", "orcid": "0000-0002-9239-9471", "researcher": {"href": "https://publications.scilifelab.se/researcher/b495409505824c8794717fd9b507a1f7.json"}}, {"family": "Ullemar", "given": "Vilhelmina", "initials": "V", "orcid": "0000-0002-8759-765X", "researcher": {"href": "https://publications.scilifelab.se/researcher/bf34fc1ddb7644edbabe552010e8754f.json"}}, {"family": "Lu", "given": "Yi", "initials": "Y", "orcid": "0000-0001-9933-3654", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a73eafe0b0e4221a77b96800883413d.json"}}, {"family": "Grosche", "given": "Sarah", "initials": "S"}, {"family": "R\u00fcschendorf", "given": "Franz", "initials": "F"}, {"family": "Granell", "given": "Raquel", "initials": "R", "orcid": "0000-0002-4890-4012", "researcher": {"href": "https://publications.scilifelab.se/researcher/44c4fdcdcf6149ba8b48366f9ba707d9.json"}}, {"family": "Brumpton", "given": "Ben M", "initials": "BM", "orcid": "0000-0002-3058-1059", "researcher": {"href": "https://publications.scilifelab.se/researcher/da9d23aaf1dc4d18a0a13e4847ea9955.json"}}, {"family": "Fritsche", "given": "Lars G", "initials": "LG", "orcid": "0000-0002-2110-1690", "researcher": {"href": "https://publications.scilifelab.se/researcher/00bea312a34a4b8f8436d00fcf799ac3.json"}}, {"family": "Bhatta", "given": "Laxmi", "initials": "L", "orcid": "0000-0002-8166-1470", "researcher": {"href": "https://publications.scilifelab.se/researcher/7833d21a70224f6da9d1b10982bb567f.json"}}, {"family": "Gabrielsen", "given": "Maiken E", "initials": "ME"}, {"family": "Nielsen", "given": "Jonas B", "initials": "JB"}, {"family": "Zhou", "given": "Wei", "initials": "W", "orcid": "0000-0001-7719-0859", "researcher": {"href": "https://publications.scilifelab.se/researcher/78c70f5da0ef414680693f1c41dcf99a.json"}}, {"family": "Hveem", "given": "Kristian", "initials": "K"}, {"family": "Langhammer", "given": "Arnulf", "initials": "A", "orcid": "0000-0001-5296-6673", "researcher": {"href": "https://publications.scilifelab.se/researcher/755b4b39d8054f2ea3e28476a7b0ae39.json"}}, {"family": "Holmen", "given": "Oddgeir L", "initials": "OL"}, {"family": "L\u00f8set", "given": "Mari", "initials": "M"}, {"family": "Abecasis", "given": "Gon\u00e7alo R", "initials": "GR"}, {"family": "Willer", "given": "Cristen J", "initials": "CJ"}, {"family": "Emami", "given": "Nima C", "initials": "NC", "orcid": "0000-0002-4296-7805", "researcher": {"href": "https://publications.scilifelab.se/researcher/4fc068c6fb6a4ca7a8e7434cb2a4b4f2.json"}}, {"family": "Cavazos", "given": "Taylor B", "initials": "TB", "orcid": "0000-0003-3537-2608", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c03835393864b859639733cb2e64e09.json"}}, {"family": "Witte", "given": "John S", "initials": "JS"}, {"family": "Szwajda", "given": "Agnieszka", "initials": "A", "orcid": "0000-0003-2073-6018", "researcher": {"href": "https://publications.scilifelab.se/researcher/72343d922a0648598d53a02da82a68c8.json"}}, {"family": "23andMe Research Team", "given": "", "initials": ""}, {"family": "collaborators of the SHARE study", "given": "", "initials": ""}, {"family": "Hinds", "given": "David A", "initials": "DA", "orcid": "0000-0002-4911-803X", "researcher": {"href": "https://publications.scilifelab.se/researcher/ba56969917d14df0bd923a54ce9f911d.json"}}, {"family": "H\u00fcbner", "given": "Norbert", "initials": "N"}, {"family": "Weidinger", "given": "Stephan", "initials": "S"}, {"family": "Magnusson", "given": "Patrik Ke", "initials": "PK", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "Jorgenson", "given": "Eric", "initials": "E", "orcid": "0000-0002-5829-8191", "researcher": {"href": "https://publications.scilifelab.se/researcher/38ef095c3de94bbc884d80c8949d16f5.json"}}, {"family": "Karlsson", "given": "Robert", "initials": "R", "orcid": "0000-0002-8949-2587", "researcher": {"href": "https://publications.scilifelab.se/researcher/9df14bf33f3342408d624caa70d45b7c.json"}}, {"family": "Paternoster", "given": "Lavinia", "initials": "L", "orcid": "0000-0003-2514-0889", "researcher": {"href": "https://publications.scilifelab.se/researcher/826f9852c56d4922ab255ab83d26faa8.json"}}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI", "orcid": "0000-0002-7099-7972", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b66ab2525fd4a468e7a4ad14c955cb4.json"}}, {"family": "Almqvist", "given": "Catarina", "initials": "C", "orcid": "0000-0002-1045-1898", "researcher": {"href": "https://publications.scilifelab.se/researcher/c7b0899897f046499272a916fd0c6ba5.json"}}, {"family": "Lee", "given": "Young-Ae", "initials": "Y"}, {"family": "Koppelman", "given": "Gerard H", "initials": "GH", "orcid": "0000-0001-8567-3252", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd7e0158050a4ab3860e288c4eb9ae87.json"}}], "type": "journal article", "published": "2020-06-00", "journal": {"title": "PLoS Genet.", "issn": "1553-7404", "issn-l": "1553-7390", "volume": "16", "issue": "6", "pages": "e1008725"}, "abstract": "Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P<3x10-8) with age-of-onset. Forty-five variants had comparable effects on the onset of the three individual diseases and 38 were also associated with allergic disease case-control status in an independent study (n = 222,484). We observed a strong negative genetic correlation between age-of-onset and case-control status of allergic disease (rg = -0.63, P = 4.5x10-61), indicating that cases with early disease onset have a greater burden of allergy risk alleles than those with late disease onset. Subsequently, a multivariate GWAS of age-of-onset and case-control status identified a further 26 associations that were missed by the univariate analyses of age-of-onset or case-control status only. Collectively, of the 76 variants identified, 18 represent novel associations for allergic disease. We identified 81 likely target genes of the 76 associated variants based on information from expression quantitative trait loci (eQTL) and non-synonymous variants, of which we highlight ADAM15, FOSL2, TRIM8, BMPR2, CD200R1, PRKCQ, NOD2, SMAD4, ABCA7 and UBE2L3. Our results support the notion that early and late onset allergic disease have partly distinct genetic architectures, potentially explaining known differences in pathophysiology between individuals.", "doi": "10.1371/journal.pgen.1008725", "pmid": "32603359", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "PGENETICS-D-18-02006"}, {"db": "pmc", "key": "PMC7367489"}], "notes": [], "created": "2021-01-07T17:01:52.734Z", "modified": "2021-12-07T13:51:25.031Z"}]}