{"entity": "researcher", "timestamp": "2026-08-07T19:20:25.677Z", "family": "Hinds", "given": "David A", "initials": "DA", "orcid": "0000-0002-4911-803X", "affiliations": ["23andMe, Inc., Mountain View, California, United States of America."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/ba56969917d14df0bd923a54ce9f911d.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/ba56969917d14df0bd923a54ce9f911d"}}, "publications": [{"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"}, {"entity": "publication", "iuid": "a3142a603e7a4accb9d367851765f150", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a3142a603e7a4accb9d367851765f150.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a3142a603e7a4accb9d367851765f150"}}, "title": "Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.", "authors": [{"family": "Ferreira", "given": "Manuel A", "initials": "MA", "orcid": "0000-0001-9059-1825", "researcher": {"href": "https://publications.scilifelab.se/researcher/d27aef5015494b018b22352125c0225d.json"}}, {"family": "Vonk", "given": "Judith M", "initials": "JM"}, {"family": "Baurecht", "given": "Hansj\u00f6rg", "initials": "H"}, {"family": "Marenholz", "given": "Ingo", "initials": "I"}, {"family": "Tian", "given": "Chao", "initials": "C"}, {"family": "Hoffman", "given": "Joshua D", "initials": "JD"}, {"family": "Helmer", "given": "Quinta", "initials": "Q"}, {"family": "Tillander", "given": "Annika", "initials": "A"}, {"family": "Ullemar", "given": "Vilhelmina", "initials": "V"}, {"family": "van Dongen", "given": "Jenny", "initials": "J"}, {"family": "Lu", "given": "Yi", "initials": "Y"}, {"family": "R\u00fcschendorf", "given": "Franz", "initials": "F", "orcid": "0000-0001-5640-810X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e02ac817ef224343ba9d9a9ac7cdc43e.json"}}, {"family": "Esparza-Gordillo", "given": "Jorge", "initials": "J"}, {"family": "Medway", "given": "Chris W", "initials": "CW"}, {"family": "Mountjoy", "given": "Edward", "initials": "E", "orcid": "0000-0002-0626-1821", "researcher": {"href": "https://publications.scilifelab.se/researcher/16fc9f5da5c34418a207b9bd468a0403.json"}}, {"family": "Burrows", "given": "Kimberley", "initials": "K"}, {"family": "Hummel", "given": "Oliver", "initials": "O"}, {"family": "Grosche", "given": "Sarah", "initials": "S"}, {"family": "Brumpton", "given": "Ben M", "initials": "BM"}, {"family": "Witte", "given": "John S", "initials": "JS"}, {"family": "Hottenga", "given": "Jouke-Jan", "initials": "JJ"}, {"family": "Willemsen", "given": "Gonneke", "initials": "G"}, {"family": "Zheng", "given": "Jie", "initials": "J"}, {"family": "Rodr\u00edguez", "given": "Elke", "initials": "E"}, {"family": "Hotze", "given": "Melanie", "initials": "M"}, {"family": "Franke", "given": "Andre", "initials": "A", "orcid": "0000-0003-1530-5811", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fffe3df068c4283a8b8b583717e6bb6.json"}}, {"family": "Revez", "given": "Joana A", "initials": "JA"}, {"family": "Beesley", "given": "Jonathan", "initials": "J"}, {"family": "Matheson", "given": "Melanie C", "initials": "MC"}, {"family": "Dharmage", "given": "Shyamali C", "initials": "SC"}, {"family": "Bain", "given": "Lisa M", "initials": "LM"}, {"family": "Fritsche", "given": "Lars G", "initials": "LG"}, {"family": "Gabrielsen", "given": "Maiken E", "initials": "ME"}, {"family": "Balliu", "given": "Brunilda", "initials": "B"}, {"family": "23andMe Research Team", "given": "", "initials": ""}, {"family": "AAGC collaborators", "given": "", "initials": ""}, {"family": "BIOS consortium", "given": "", "initials": ""}, {"family": "LifeLines Cohort Study", "given": "", "initials": ""}, {"family": "Nielsen", "given": "Jonas B", "initials": "JB", "orcid": "0000-0002-6654-2852", "researcher": {"href": "https://publications.scilifelab.se/researcher/4e2c20e3817a4c79b8ae7110d197e69d.json"}}, {"family": "Zhou", "given": "Wei", "initials": "W"}, {"family": "Hveem", "given": "Kristian", "initials": "K"}, {"family": "Langhammer", "given": "Arnulf", "initials": "A"}, {"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", "orcid": "0000-0001-5645-4966", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3a8e1d33146452b87e7e21eb5339f80.json"}}, {"family": "Arnold", "given": "Andreas", "initials": "A"}, {"family": "Homuth", "given": "Georg", "initials": "G"}, {"family": "Schmidt", "given": "Carsten O", "initials": "CO"}, {"family": "Thompson", "given": "Philip J", "initials": "PJ"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG"}, {"family": "Duffy", "given": "David L", "initials": "DL", "orcid": "0000-0002-8875-2308", "researcher": {"href": "https://publications.scilifelab.se/researcher/dce1a0fd17154c73b30f23c2a58bd390.json"}}, {"family": "Novak", "given": "Natalija", "initials": "N"}, {"family": "Schulz", "given": "Holger", "initials": "H"}, {"family": "Karrasch", "given": "Stefan", "initials": "S"}, {"family": "Gieger", "given": "Christian", "initials": "C", "orcid": "0000-0001-6986-9554", "researcher": {"href": "https://publications.scilifelab.se/researcher/86f44e76061c403fadd97b768e2a7e62.json"}}, {"family": "Strauch", "given": "Konstantin", "initials": "K"}, {"family": "Melles", "given": "Ronald B", "initials": "RB"}, {"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", "orcid": "0000-0002-1218-6223", "researcher": {"href": "https://publications.scilifelab.se/researcher/1d84f34739c743838cea107286522e42.json"}}, {"family": "Weidinger", "given": "Stephan", "initials": "S"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE"}, {"family": "Jansen", "given": "Rick", "initials": "R", "orcid": "0000-0002-3333-6737", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcd392c9b9784ebe8c8730e05463377a.json"}}, {"family": "Jorgenson", "given": "Eric", "initials": "E", "orcid": "0000-0002-5829-8191", "researcher": {"href": "https://publications.scilifelab.se/researcher/38ef095c3de94bbc884d80c8949d16f5.json"}}, {"family": "Lee", "given": "Young-Ae", "initials": "YA"}, {"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": "Karlsson", "given": "Robert", "initials": "R", "orcid": "0000-0002-8949-2587", "researcher": {"href": "https://publications.scilifelab.se/researcher/9df14bf33f3342408d624caa70d45b7c.json"}}, {"family": "Koppelman", "given": "Gerard H", "initials": "GH", "orcid": "0000-0001-8567-3252", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd7e0158050a4ab3860e288c4eb9ae87.json"}}, {"family": "Paternoster", "given": "Lavinia", "initials": "L", "orcid": "0000-0003-2514-0889", "researcher": {"href": "https://publications.scilifelab.se/researcher/826f9852c56d4922ab255ab83d26faa8.json"}}], "type": "journal article", "published": "2017-12-00", "journal": {"volume": "49", "issn": "1546-1718", "issue": "12", "title": "Nat. Genet.", "pages": "1752-1757", "issn-l": "1061-4036"}, "abstract": "Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of a shared genetic origin. To identify shared risk variants, we performed a genome-wide association study (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one of these three diseases. We identified 136 independent risk variants (P < 3 \u00d7 10-8), including 73 not previously reported, which implicate 132 nearby genes in allergic disease pathophysiology. Disease-specific effects were detected for only six variants, confirming that most represent shared risk factors. Tissue-specific heritability and biological process enrichment analyses suggest that shared risk variants influence lymphocyte-mediated immunity. Six target genes provide an opportunity for drug repositioning, while for 36 genes CpG methylation was found to influence transcription independently of genetic effects. Asthma, hay fever and eczema partly coexist because they share many genetic risk variants that dysregulate the expression of immune-related genes.", "doi": "10.1038/ng.3985", "pmid": "29083406", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "mid", "key": "EMS74439"}, {"db": "pmc", "key": "PMC5989923"}, {"db": "pii", "key": "ng.3985"}], "notes": [], "created": "2017-11-09T16:02:23.965Z", "modified": "2023-06-19T10:57:00.779Z"}]}