{"entity": "researcher", "timestamp": "2026-08-17T02:04:29.307Z", "family": "Baurecht", "given": "Hansj\u00f6rg", "initials": "H", "orcid": "0000-0002-9265-5594", "affiliations": ["Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.", "Department of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/65098dade92d4b87a691906582cc4fa9.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/65098dade92d4b87a691906582cc4fa9"}}, "publications": [{"entity": "publication", "iuid": "a16477100ca44690afdb66e882fc52d2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a16477100ca44690afdb66e882fc52d2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a16477100ca44690afdb66e882fc52d2"}}, "title": "Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.", "authors": [{"family": "Grosche", "given": "Sarah", "initials": "S"}, {"family": "Marenholz", "given": "Ingo", "initials": "I"}, {"family": "Esparza-Gordillo", "given": "Jorge", "initials": "J"}, {"family": "Arnau-Soler", "given": "Aleix", "initials": "A"}, {"family": "Pairo-Castineira", "given": "Erola", "initials": "E", "orcid": "0000-0002-2423-3090", "researcher": {"href": "https://publications.scilifelab.se/researcher/c8cc869b85f64312b03d353912f1fba4.json"}}, {"family": "R\u00fcschendorf", "given": "Franz", "initials": "F", "orcid": "0000-0001-5640-810X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e02ac817ef224343ba9d9a9ac7cdc43e.json"}}, {"family": "Ahluwalia", "given": "Tarunveer S", "initials": "TS", "orcid": "0000-0002-7464-3354", "researcher": {"href": "https://publications.scilifelab.se/researcher/2fde142189574b44a72155785763a327.json"}}, {"family": "Almqvist", "given": "Catarina", "initials": "C"}, {"family": "Arnold", "given": "Andreas", "initials": "A"}, {"family": "Australian Asthma Genetics Consortium (AAGC)", "given": "", "initials": ""}, {"family": "Baurecht", "given": "Hansj\u00f6rg", "initials": "H", "orcid": "0000-0002-9265-5594", "researcher": {"href": "https://publications.scilifelab.se/researcher/65098dade92d4b87a691906582cc4fa9.json"}}, {"family": "Bisgaard", "given": "Hans", "initials": "H", "orcid": "0000-0003-4131-7592", "researcher": {"href": "https://publications.scilifelab.se/researcher/5179e5b6e16e482c9d2a9d8250bfc44d.json"}}, {"family": "B\u00f8nnelykke", "given": "Klaus", "initials": "K", "orcid": "0000-0003-2003-1018", "researcher": {"href": "https://publications.scilifelab.se/researcher/2e0992f23e69443c8bf08589711cb9b9.json"}}, {"family": "Brown", "given": "Sara J", "initials": "SJ", "orcid": "0000-0002-3232-5251", "researcher": {"href": "https://publications.scilifelab.se/researcher/f3d24ef4a0034f3fbe0bdf273ffc25fc.json"}}, {"family": "Bustamante", "given": "Mariona", "initials": "M", "orcid": "0000-0003-0127-2860", "researcher": {"href": "https://publications.scilifelab.se/researcher/7283551b36ce4d99851d8eb166af3bf9.json"}}, {"family": "Curtin", "given": "John A", "initials": "JA"}, {"family": "Custovic", "given": "Adnan", "initials": "A", "orcid": "0000-0001-5218-7071", "researcher": {"href": "https://publications.scilifelab.se/researcher/54b6c2bf8fc54ae68fec26ea7d6bc158.json"}}, {"family": "Dharmage", "given": "Shyamali C", "initials": "SC"}, {"family": "Esplugues", "given": "Ana", "initials": "A"}, {"family": "Falchi", "given": "Mario", "initials": "M", "orcid": "0000-0002-5646-1004", "researcher": {"href": "https://publications.scilifelab.se/researcher/74b676eb136243318749e1a4e265d71e.json"}}, {"family": "Fernandez-Orth", "given": "Dietmar", "initials": "D", "orcid": "0000-0002-1237-3192", "researcher": {"href": "https://publications.scilifelab.se/researcher/119682064dc44f92ba9dffdcc9652e46.json"}}, {"family": "Ferreira", "given": "Manuel A R", "initials": "MAR"}, {"family": "Franke", "given": "Andre", "initials": "A", "orcid": "0000-0003-1530-5811", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fffe3df068c4283a8b8b583717e6bb6.json"}}, {"family": "Gerdes", "given": "Sascha", "initials": "S"}, {"family": "Gieger", "given": "Christian", "initials": "C", "orcid": "0000-0001-6986-9554", "researcher": {"href": "https://publications.scilifelab.se/researcher/86f44e76061c403fadd97b768e2a7e62.json"}}, {"family": "Hakonarson", "given": "Hakon", "initials": "H", "orcid": "0000-0003-2814-7461", "researcher": {"href": "https://publications.scilifelab.se/researcher/bd650cc09eb84d669c55c3f0ef690955.json"}}, {"family": "Holt", "given": "Patrick G", "initials": "PG", "orcid": "0000-0003-1193-0935", "researcher": {"href": "https://publications.scilifelab.se/researcher/3e746298fc4143a3bf5d8a6250d88254.json"}}, {"family": "Homuth", "given": "Georg", "initials": "G"}, {"family": "Hubner", "given": "Norbert", "initials": "N", "orcid": "0000-0002-1218-6223", "researcher": {"href": "https://publications.scilifelab.se/researcher/1d84f34739c743838cea107286522e42.json"}}, {"family": "Hysi", "given": "Pirro G", "initials": "PG", "orcid": "0000-0001-5752-2510", "researcher": {"href": "https://publications.scilifelab.se/researcher/8d756a9f3294490fa137e2308ccb353e.json"}}, {"family": "Jarvelin", "given": "Marjo-Riitta", "initials": "M"}, {"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": "Lau", "given": "Susanne", "initials": "S"}, {"family": "Lutz", "given": "Manuel", "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": "Marks", "given": "Guy B", "initials": "GB"}, {"family": "M\u00fcller-Nurasyid", "given": "Martina", "initials": "M", "orcid": "0000-0003-3793-5910", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d21299bb41343f88142255e64a9da57.json"}}, {"family": "N\u00f6then", "given": "Markus M", "initials": "MM", "orcid": "0000-0002-8770-2464", "researcher": {"href": "https://publications.scilifelab.se/researcher/903aa25b88bc48adbe60be2a7179929b.json"}}, {"family": "Paternoster", "given": "Lavinia", "initials": "L", "orcid": "0000-0003-2514-0889", "researcher": {"href": "https://publications.scilifelab.se/researcher/826f9852c56d4922ab255ab83d26faa8.json"}}, {"family": "Pennell", "given": "Craig E", "initials": "CE", "orcid": "0000-0002-0937-6165", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e35a98141ce4350b6775593f87e40a5.json"}}, {"family": "Peters", "given": "Annette", "initials": "A", "orcid": "0000-0001-6645-0985", "researcher": {"href": "https://publications.scilifelab.se/researcher/05465e52a0f6412e81752d2249af30de.json"}}, {"family": "Rawlik", "given": "Konrad", "initials": "K", "orcid": "0000-0002-0010-370X", "researcher": {"href": "https://publications.scilifelab.se/researcher/3c46ce845e5a43b98ba496c13ca987cd.json"}}, {"family": "Robertson", "given": "Colin F", "initials": "CF"}, {"family": "Rodriguez", "given": "Elke", "initials": "E", "orcid": "0000-0003-3692-3950", "researcher": {"href": "https://publications.scilifelab.se/researcher/4e8669678dc94c32bda1a12b81a22743.json"}}, {"family": "Sebert", "given": "Sylvain", "initials": "S", "orcid": "0000-0001-6681-6983", "researcher": {"href": "https://publications.scilifelab.se/researcher/c007e85f69d4421bb6cf76dc52a01eb8.json"}}, {"family": "Simpson", "given": "Angela", "initials": "A"}, {"family": "Sleiman", "given": "Patrick M A", "initials": "PMA"}, {"family": "Standl", "given": "Marie", "initials": "M"}, {"family": "St\u00f6lzl", "given": "Dora", "initials": "D"}, {"family": "Strauch", "given": "Konstantin", "initials": "K"}, {"family": "Szwajda", "given": "Agnieszka", "initials": "A"}, {"family": "Tenesa", "given": "Albert", "initials": "A", "orcid": "0000-0003-4884-4475", "researcher": {"href": "https://publications.scilifelab.se/researcher/99ef99f1a6d5469facdbc8faa2b0ef39.json"}}, {"family": "Thompson", "given": "Philip J", "initials": "PJ"}, {"family": "Ullemar", "given": "Vilhelmina", "initials": "V"}, {"family": "Visconti", "given": "Alessia", "initials": "A", "orcid": "0000-0003-4144-2019", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6b388c130a94f66819774f44a4c6e38.json"}}, {"family": "Vonk", "given": "Judith M", "initials": "JM", "orcid": "0000-0001-7531-4547", "researcher": {"href": "https://publications.scilifelab.se/researcher/e57100a0e5bc48c59590c043897a8bbd.json"}}, {"family": "Wang", "given": "Carol A", "initials": "CA", "orcid": "0000-0002-4301-3974", "researcher": {"href": "https://publications.scilifelab.se/researcher/bf99a43c27034a68976e978b104a91d7.json"}}, {"family": "Weidinger", "given": "Stephan", "initials": "S"}, {"family": "Wielscher", "given": "Matthias", "initials": "M"}, {"family": "Worth", "given": "Catherine L", "initials": "CL", "orcid": "0000-0002-1796-9606", "researcher": {"href": "https://publications.scilifelab.se/researcher/7a8a93c773b54b288809d04813441600.json"}}, {"family": "Xu", "given": "Chen-Jian", "initials": "C"}, {"family": "Lee", "given": "Young-Ae", "initials": "Y"}], "type": "journal article", "published": "2021-11-16", "journal": {"title": "Nat Commun", "issn": "2041-1723", "issn-l": "2041-1723", "volume": "12", "issue": "1", "pages": "6618"}, "abstract": "Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels. We identify rare exonic variants in DUSP1, NOTCH4, and SLC9A4 to be associated with eczema. In DUSP1 and NOTCH4 missense variants are predicted to impact conserved functional domains. In addition, five novel common variants at SATB1-AS1/KCNH8, TRIB1/LINC00861, ZBTB1, TBX21/OSBPL7, and CSF2RB are discovered. While genes prioritized based on rare variants are significantly up-regulated in the skin, common variants point to immune cell function. Over 20% of the single nucleotide variant-based heritability is attributable to rare and low-frequency variants. The identified rare/low-frequency variants located in functional protein domains point to promising targets for novel therapeutic approaches to eczema.", "doi": "10.1038/s41467-021-26783-x", "pmid": "34785669", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-021-26783-x"}, {"db": "pmc", "key": "PMC8595373"}], "notes": [], "created": "2021-11-26T16:27:57.327Z", "modified": "2021-12-07T06:56:28.734Z"}, {"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"}]}