{"entity": "researcher", "timestamp": "2026-08-13T18:34:48.114Z", "family": "Duffy", "given": "Darragh", "initials": "D", "orcid": "0000-0002-8875-2308", "affiliations": ["Translational Immunology Laboratory, Institut Pasteur, Paris, France."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/dce1a0fd17154c73b30f23c2a58bd390.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/dce1a0fd17154c73b30f23c2a58bd390"}}, "publications": [{"entity": "publication", "iuid": "3ac2338c940e45e6acafb257753df065", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3ac2338c940e45e6acafb257753df065.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3ac2338c940e45e6acafb257753df065"}}, "title": "Immune system adaptation during gender-affirming testosterone treatment.", "authors": [{"family": "Lakshmikanth", "given": "Tadepally", "initials": "T", "orcid": "0000-0001-7256-5770", "researcher": {"href": "https://publications.scilifelab.se/researcher/92e81aa6b0cf4ff0a18b14098bf0fcc1.json"}}, {"family": "Consiglio", "given": "Camila", "initials": "C", "orcid": "0000-0002-8901-2328", "researcher": {"href": "https://publications.scilifelab.se/researcher/7df7044aa718438ca370ed90cdd9c282.json"}}, {"family": "Sardh", "given": "Fabian", "initials": "F"}, {"family": "Forlin", "given": "Rikard", "initials": "R"}, {"family": "Wang", "given": "Jun", "initials": "J"}, {"family": "Tan", "given": "Ziyang", "initials": "Z"}, {"family": "Barcenilla", "given": "Hugo", "initials": "H", "orcid": "0000-0002-7255-362X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0f0d6085e774a0fbdc1ad8d6eea3c23.json"}}, {"family": "Rodriguez", "given": "Lucie", "initials": "L", "orcid": "0000-0002-3692-9060", "researcher": {"href": "https://publications.scilifelab.se/researcher/1f9c2cfec48e4c4d8e9bc528a02d489b.json"}}, {"family": "Sugrue", "given": "Jamie", "initials": "J"}, {"family": "Noori", "given": "Peri", "initials": "P"}, {"family": "Ivanchenko", "given": "Margarita", "initials": "M"}, {"family": "Pi\u00f1ero P\u00e1ez", "given": "Laura", "initials": "L"}, {"family": "Gonzalez", "given": "Laura", "initials": "L"}, {"family": "Habimana Mugabo", "given": "Constantin", "initials": "C"}, {"family": "Johnsson", "given": "Anette", "initials": "A"}, {"family": "Ryberg", "given": "Henrik", "initials": "H"}, {"family": "Hallgren", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Pou", "given": "Christian", "initials": "C"}, {"family": "Chen", "given": "Yang", "initials": "Y"}, {"family": "Mike\u0161", "given": "Jarom\u00edr", "initials": "J", "orcid": "0000-0002-9941-7855", "researcher": {"href": "https://publications.scilifelab.se/researcher/21c127bffa7c4a01af7fad8ba6bac90b.json"}}, {"family": "James", "given": "Anna", "initials": "A"}, {"family": "Dahlqvist", "given": "Per", "initials": "P", "orcid": "0000-0002-6471-9503", "researcher": {"href": "https://publications.scilifelab.se/researcher/3577b15f446643499c52143174a5e15b.json"}}, {"family": "Wahlberg", "given": "Jeanette", "initials": "J", "orcid": "0000-0003-4061-6830", "researcher": {"href": "https://publications.scilifelab.se/researcher/a3c768cb21cb4d0ca6ed684ad39e9121.json"}}, {"family": "Hagelin", "given": "Anders", "initials": "A"}, {"family": "Holmberg", "given": "Mats", "initials": "M", "orcid": "0000-0003-2884-9981", "researcher": {"href": "https://publications.scilifelab.se/researcher/38b253b834ed4733af1e5a13daac7541.json"}}, {"family": "Degerblad", "given": "Marie", "initials": "M"}, {"family": "Isaksson", "given": "Magnus", "initials": "M"}, {"family": "Duffy", "given": "Darragh", "initials": "D", "orcid": "0000-0002-8875-2308", "researcher": {"href": "https://publications.scilifelab.se/researcher/dce1a0fd17154c73b30f23c2a58bd390.json"}}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Brodin", "given": "Petter", "initials": "P", "orcid": "0000-0002-8103-0046", "researcher": {"href": "https://publications.scilifelab.se/researcher/40097353cdb24e52bf2330eb687042bf.json"}}], "type": "journal article", "published": "2024-09-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "633", "issue": "8028", "pages": "155-164", "issn-l": "0028-0836"}, "abstract": "Infectious, inflammatory and autoimmune conditions present differently in males and females. SARS-CoV-2 infection in naive males is associated with increased risk of death, whereas females are at increased risk of long COVID1, similar to observations in other infections2. Females respond more strongly to vaccines, and adverse reactions are more frequent3, like most autoimmune diseases4. Immunological sex differences stem from genetic, hormonal and behavioural factors5 but their relative importance is only partially understood6-8. In individuals assigned female sex at birth and undergoing gender-affirming testosterone therapy (trans men), hormone concentrations change markedly but the immunological consequences are poorly understood. Here we performed longitudinal systems-level analyses in 23 trans men and found that testosterone modulates a cross-regulated axis between type-I interferon and tumour necrosis factor. This is mediated by functional attenuation of type-I interferon responses in both plasmacytoid dendritic cells and monocytes. Conversely, testosterone potentiates monocyte responses leading to increased tumour necrosis factor, interleukin-6 and interleukin-15 production and downstream activation of nuclear factor kappa B-regulated genes and potentiation of interferon-\u03b3 responses, primarily in natural killer cells. These findings in trans men are corroborated by sex-divergent responses in public datasets and illustrate the dynamic regulation of human immunity by sex hormones, with implications for the health of individuals undergoing hormone therapy and our understanding of sex-divergent immune responses in cisgender individuals.", "doi": "10.1038/s41586-024-07789-z", "pmid": "39232147", "labels": {"Affinity Proteomics Stockholm": "Service", "NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11374716"}, {"db": "pii", "key": "10.1038/s41586-024-07789-z"}], "notes": [], "created": "2024-09-05T12:15:43.557Z", "modified": "2024-11-25T10:19:29.191Z"}, {"entity": "publication", "iuid": "ac5d8c870c3c4541901880e117486f37", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ac5d8c870c3c4541901880e117486f37.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ac5d8c870c3c4541901880e117486f37"}}, "title": "A Call for Blood\u2014In Human Immunology", "authors": [{"family": "Brodin", "given": "Petter", "initials": "P", "orcid": "0000-0002-8103-0046", "researcher": {"href": "https://publications.scilifelab.se/researcher/40097353cdb24e52bf2330eb687042bf.json"}}, {"family": "Duffy", "given": "Darragh", "initials": "D", "orcid": "0000-0002-8875-2308", "researcher": {"href": "https://publications.scilifelab.se/researcher/dce1a0fd17154c73b30f23c2a58bd390.json"}}, {"family": "Quintana-Murci", "given": "Lluis", "initials": "L", "orcid": "0000-0003-2429-6320", "researcher": {"href": "https://publications.scilifelab.se/researcher/ace3ac29b9a74fb68976820310224740.json"}}], "type": "journal-article", "published": "2019-06-00", "journal": {"volume": "50", "issn": "1074-7613", "issue": "6", "pages": "1335-1336", "title": "Immunity", "issn-l": null}, "abstract": null, "doi": "10.1016/j.immuni.2019.05.012", "pmid": "31216453", "labels": {"Cellular Immunomonitoring": "Technology development", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "S1074-7613(19)30232-8"}], "notes": [], "created": "2019-06-30T19:15:40.149Z", "modified": "2024-01-16T13:48:44.317Z"}, {"entity": "publication", "iuid": "e3d5472c01f14529be1d69c2d9cfefdb", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e3d5472c01f14529be1d69c2d9cfefdb.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e3d5472c01f14529be1d69c2d9cfefdb"}}, "title": "Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.", "authors": [{"family": "Kaleviste", "given": "Epp", "initials": "E"}, {"family": "Saare", "given": "Mario", "initials": "M"}, {"family": "Leahy", "given": "Timothy Ronan", "initials": "TR"}, {"family": "Bondet", "given": "Vincent", "initials": "V"}, {"family": "Duffy", "given": "Darragh", "initials": "D", "orcid": "0000-0002-8875-2308", "researcher": {"href": "https://publications.scilifelab.se/researcher/dce1a0fd17154c73b30f23c2a58bd390.json"}}, {"family": "Mogensen", "given": "Trine H", "initials": "TH", "orcid": "0000-0002-1853-9704", "researcher": {"href": "https://publications.scilifelab.se/researcher/a27f3f726f7546b7800c722348411cb9.json"}}, {"family": "J\u00f8rgensen", "given": "Sofie E", "initials": "SE"}, {"family": "Nurm", "given": "Helke", "initials": "H"}, {"family": "Ip", "given": "Winnie", "initials": "W"}, {"family": "Davies", "given": "E Graham", "initials": "EG"}, {"family": "Sauer", "given": "Sascha", "initials": "S"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC", "orcid": "0000-0002-9681-9146", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7012e35025543379380cb90efd71243.json"}}, {"family": "Milani", "given": "Lili", "initials": "L", "orcid": "0000-0002-5323-3102", "researcher": {"href": "https://publications.scilifelab.se/researcher/dec8d00c4b9d43458c5c895b164695d5.json"}}, {"family": "Peterson", "given": "P\u00e4rt", "initials": "P", "orcid": "0000-0001-6755-791X", "researcher": {"href": "https://publications.scilifelab.se/researcher/62e117ce0c4847c592011f09888326a3.json"}}, {"family": "Kisand", "given": "Kai", "initials": "K", "orcid": "0000-0002-5426-4648", "researcher": {"href": "https://publications.scilifelab.se/researcher/f3f676eacf9544b5b06ec3aafbf29899.json"}}], "type": "journal article", "published": "2019-05-00", "journal": {"volume": "49", "issn": "1521-4141", "issue": "5", "pages": "790-800", "title": "Eur. J. Immunol.", "issn-l": "0014-2980"}, "abstract": "STAT1 gain-of-function (GOF) variants lead to defective Th17 cell development and chronic mucocutaneous candidiasis (CMC), but frequently also to autoimmunity. Stimulation of cells with STAT1 inducing cytokines like interferons (IFN) result in hyperphosphorylation and delayed dephosphorylation of GOF STAT1. However, the mechanism how the delayed dephosphorylation exactly causes the increased expression of STAT1-dependent genes, and how the intracellular signal transduction from cytokine receptors is affected, remains unknown. In this study we show that the circulating levels of IFN-\u03b1 were not persistently elevated in STAT1 GOF patients. Nevertheless, the expression of interferon signature genes was evident even in the patient with low or undetectable serum IFN-\u03b1 levels. Chromatin immunoprecipitation (ChIP) experiments revealed that the active chromatin mark trimethylation of lysine 4 of histone 3 (H3K4me3), was significantly enriched in areas associated with interferon-stimulated genes in STAT1 GOF cells in comparison to cells from healthy donors. This suggests that the chromatin binding of GOF STAT1 variant promotes epigenetic changes compatible with higher gene expression and elevated reactivity to type I interferons, and possibly predisposes for interferon-related autoimmunity. The results also suggest that epigenetic rewiring may be responsible for treatment failure of Janus kinase 1/2 (JAK1/2) inhibitors in certain patients.", "doi": "10.1002/eji.201847955", "pmid": "30801692", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [], "notes": [], "created": "2019-12-03T13:21:31.593Z", "modified": "2023-06-19T10:56:15.956Z"}, {"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"}, {"entity": "publication", "iuid": "2f3d27778eb44d49b03e70d17cd679d7", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2f3d27778eb44d49b03e70d17cd679d7.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2f3d27778eb44d49b03e70d17cd679d7"}}, "title": "Meta-analysis identifies seven susceptibility loci involved in the atopic march.", "authors": [{"family": "Marenholz", "given": "Ingo", "initials": "I"}, {"family": "Esparza-Gordillo", "given": "Jorge", "initials": "J"}, {"family": "R\u00fcschendorf", "given": "Franz", "initials": "F"}, {"family": "Bauerfeind", "given": "Anja", "initials": "A"}, {"family": "Strachan", "given": "David P", "initials": "DP"}, {"family": "Spycher", "given": "Ben D", "initials": "BD"}, {"family": "Baurecht", "given": "Hansj\u00f6rg", "initials": "H"}, {"family": "Margaritte-Jeannin", "given": "Patricia", "initials": "P"}, {"family": "S\u00e4\u00e4f", "given": "Annika", "initials": "A"}, {"family": "Kerkhof", "given": "Marjan", "initials": "M"}, {"family": "Ege", "given": "Markus", "initials": "M"}, {"family": "Baltic", "given": "Svetlana", "initials": "S"}, {"family": "Matheson", "given": "Melanie C", "initials": "MC"}, {"family": "Li", "given": "Jin", "initials": "J"}, {"family": "Michel", "given": "Sven", "initials": "S"}, {"family": "Ang", "given": "Wei Q", "initials": "WQ"}, {"family": "McArdle", "given": "Wendy", "initials": "W"}, {"family": "Arnold", "given": "Andreas", "initials": "A"}, {"family": "Homuth", "given": "Georg", "initials": "G"}, {"family": "Demenais", "given": "Florence", "initials": "F"}, {"family": "Bouzigon", "given": "Emmanuelle", "initials": "E"}, {"family": "S\u00f6derh\u00e4ll", "given": "Cilla", "initials": "C"}, {"family": "Pershagen", "given": "G\u00f6ran", "initials": "G"}, {"family": "de Jongste", "given": "Johan C", "initials": "JC"}, {"family": "Postma", "given": "Dirkje S", "initials": "DS"}, {"family": "Braun-Fahrl\u00e4nder", "given": "Charlotte", "initials": "C"}, {"family": "Horak", "given": "Elisabeth", "initials": "E"}, {"family": "Ogorodova", "given": "Ludmila M", "initials": "LM"}, {"family": "Puzyrev", "given": "Valery P", "initials": "VP"}, {"family": "Bragina", "given": "Elena Yu", "initials": "EY"}, {"family": "Hudson", "given": "Thomas J", "initials": "TJ"}, {"family": "Morin", "given": "Charles", "initials": "C"}, {"family": "Duffy", "given": "David L", "initials": "DL", "orcid": "0000-0002-8875-2308", "researcher": {"href": "https://publications.scilifelab.se/researcher/dce1a0fd17154c73b30f23c2a58bd390.json"}}, {"family": "Marks", "given": "Guy B", "initials": "GB"}, {"family": "Robertson", "given": "Colin F", "initials": "CF"}, {"family": "Montgomery", "given": "Grant W", "initials": "GW"}, {"family": "Musk", "given": "Bill", "initials": "B"}, {"family": "Thompson", "given": "Philip J", "initials": "PJ"}, {"family": "Martin", "given": "Nicholas G", "initials": "NG"}, {"family": "James", "given": "Alan", "initials": "A"}, {"family": "Sleiman", "given": "Patrick", "initials": "P"}, {"family": "Toskala", "given": "Elina", "initials": "E"}, {"family": "Rodriguez", "given": "Elke", "initials": "E"}, {"family": "F\u00f6lster-Holst", "given": "Regina", "initials": "R"}, {"family": "Franke", "given": "Andre", "initials": "A"}, {"family": "Lieb", "given": "Wolfgang", "initials": "W"}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Heinzmann", "given": "Andrea", "initials": "A"}, {"family": "Rietschel", "given": "Ernst", "initials": "E"}, {"family": "Keil", "given": "Thomas", "initials": "T"}, {"family": "Cichon", "given": "Sven", "initials": "S"}, {"family": "N\u00f6then", "given": "Markus M", "initials": "MM"}, {"family": "Pennell", "given": "Craig E", "initials": "CE"}, {"family": "Sly", "given": "Peter D", "initials": "PD"}, {"family": "Schmidt", "given": "Carsten O", "initials": "CO"}, {"family": "Matanovic", "given": "Anja", "initials": "A"}, {"family": "Schneider", "given": "Valentin", "initials": "V"}, {"family": "Heinig", "given": "Matthias", "initials": "M"}, {"family": "H\u00fcbner", "given": "Norbert", "initials": "N"}, {"family": "Holt", "given": "Patrick G", "initials": "PG"}, {"family": "Lau", "given": "Susanne", "initials": "S"}, {"family": "Kabesch", "given": "Michael", "initials": "M"}, {"family": "Weidinger", "given": "Stefan", "initials": "S"}, {"family": "Hakonarson", "given": "Hakon", "initials": "H"}, {"family": "Ferreira", "given": "Manuel A R", "initials": "MA"}, {"family": "Laprise", "given": "Catherine", "initials": "C"}, {"family": "Freidin", "given": "Maxim B", "initials": "MB"}, {"family": "Genuneit", "given": "Jon", "initials": "J"}, {"family": "Koppelman", "given": "Gerard H", "initials": "GH"}, {"family": "Mel\u00e9n", "given": "Erik", "initials": "E"}, {"family": "Dizier", "given": "Marie-H\u00e9l\u00e8ne", "initials": "MH"}, {"family": "Henderson", "given": "A John", "initials": "AJ"}, {"family": "Lee", "given": "Young Ae", "initials": "YA"}], "type": "journal article", "published": "2015-11-06", "journal": {"volume": "6", "issn": "2041-1723", "issue": null, "pages": "8804", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "Eczema often precedes the development of asthma in a disease course called the 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 \u00d7 10(-8)) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 \u00d7 10(-9)). Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). We show that predominantly eczema loci increase the risk for the atopic march. Our findings suggest that eczema may play an important role in the development of asthma after eczema.", "doi": "10.1038/ncomms9804", "pmid": "26542096", "labels": {"Mutation Analysis Facility (MAF)": null}, "xrefs": [{"db": "pii", "key": "ncomms9804"}, {"db": "pmc", "key": "PMC4667629"}], "notes": [], "created": "2017-05-02T12:57:59.687Z", "modified": "2023-06-19T10:55:16.441Z"}]}