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Budu-Aggrey, A.* ; Kilanowski, A. ; Sobczyk, M.K.* ; Shringarpure, S.S.* ; Mitchell, R.* ; Reis, K.* ; Reigo, A.* ; Mägi, R.* ; Nelis, M.* ; Tanaka, N.* ; Brumpton, B.M.* ; Thomas, L.F.* ; Sole-Navais, P.* ; Flatley, C.* ; Espuela-Ortiz, A.* ; Herrera-Luis, E.* ; Lominchar, J.V.T.* ; Bork-Jensen, J.* ; Marenholz, I.* ; Arnau-Soler, A.* ; Jeong, A.* ; Fawcett, K.A.* ; Baurecht, H.* ; Rodriguez, E.* ; Alves, A.C.* ; Kumar, A.* ; Sleiman, P.M.* ; Chang, X.* ; Medina-Gomez, C.* ; Hu, C.* ; Xu, C.J.* ; Qi, C.* ; El-Heis, S.* ; Titcombe, P.* ; Antoun, E.* ; Fadista, J.* ; Wang, C.A.* ; Thiering, E. ; Wu, B.* ; Kress, S.* ; Kothalawala, D.M.* ; Kadalayil, L.* ; Duan, J.* ; Zhang, H.* ; Hadebe, S.* ; Hoffmann, T.* ; Jorgenson, E.* ; Choquet, H.* ; Risch, N.* ; Njølstad, P.* ; Andreassen, O.A.* ; Johansson, S.* ; Almqvist, C.* ; Gong, T.* ; Ullemar, V.* ; Karlsson, R.* ; Magnusson, P.K.E.* ; Szwajda, A.* ; Burchard, E.G.* ; Thyssen, J.P.* ; Hansen, T.* ; Kårhus, L.L.* ; Dantoft, T.M.* ; Jeanrenaud, A.C.S.N.* ; Ghauri, A.* ; Arnold, A.* ; Homuth, G.* ; Lau, S.* ; Nöthen, M.M.* ; Hubner, N.* ; Imboden, M.* ; Visconti, A.* ; Falchi, M.* ; Bataille, V.* ; Hysi, P.* ; Ballardini, N.* ; Boomsma, D.I.* ; Hottenga, J.J.* ; Müller-Nurasyid, M. ; Ahluwalia, T.S.* ; Stokholm, J.* ; Chawes, B.* ; Schoos, A.M.* ; Esplugues, A.* ; Bustamante, M.* ; Raby, B.* ; Arshad, S.* ; German, C.* ; Esko, T.* ; Milani, L.A.* ; Metspalu, A.* ; Terao, C.* ; Abuabara, K.* ; Løset, M.* ; Hveem, K.* ; Jacobsson, B.* ; Pino-Yanes, M.* ; Strachan, D.P.* ; Grarup, N.* ; Linneberg, A.* ; Lee, Y.A.* ; Probst-Hensch, N.* ; Weidinger, S.* ; Jarvelin, M.R.* ; Melén, E.* ; Hakonarson, H.* ; Irvine, A.D.* ; Jarvis, D.* ; Nijsten, T.* ; Duijts, L.* ; Vonk, J.M.* ; Koppelmann, G.H.* ; Godfrey, K.M.* ; Barton, S.J.* ; Feenstra, B.* ; Pennell, C.E.* ; Sly, P.D.* ; Holt, P.G.* ; Williams, L.K.* ; Bisgaard, H.* ; Bønnelykke, K.* ; Curtin, J.* ; Simpson, A.* ; Murray, C.* ; Schikowski, T.* ; Bunyavanich, S.* ; Weiss, S.T.* ; Holloway, J.W.* ; Min, J.L.* ; Brown, S.J.* ; Standl, M. ; Paternoster, L.*

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.

Nat. Commun. 14:6172 (2023)
Publ. Version/Full Text DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel). Eight variants from the multi-ancestry analysis replicated in at least one of the populations tested (European, Latino or African), while two may be specific to individuals of Japanese ancestry. AD loci showed enrichment for DNAse I hypersensitivity and eQTL associations in blood. At each locus we prioritised candidate genes by integrating multi-omic data. The implicated genes are predominantly in immune pathways of relevance to atopic inflammation and some offer drug repurposing opportunities.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Susceptibility Loci; Gene-expression; Gwas; Filaggrin; Transcriptome; Regression; Children; Variants; Pathways; Reveals
Language english
Publication Year 2023
HGF-reported in Year 2023
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Journal Nature Communications
Quellenangaben Volume: 14, Issue: 1, Pages: , Article Number: 6172 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
POF-Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504000-008
G-504100-001
Grants European Research Council (ERC) under the European Union's Horizon 2020 research and innovation programme
MRC South Africa
NRF Competitive Support for Unrated Researcher
NRF Thuthuka Grant
Vera Davie Study and Research Sabbatical Bursary
Wellcome Trust Senior Research Fellowship in Clinical Science
British Heart Foundation
Global Challenges Research Fund
Government Department for Business, Energy and Industrial Strategy
Academy of Medical Sciences Springboard Award - Wellcome Trust
British Skin Foundation
UK Medical Research Council
EFPIA
European Union's Horizon 2020 research and innovation programme
Innovative Medicines Initiative 2 Joint Undertaking (JU)
DOI 10.1038/s41467-023-41180-2
WOS ID 001097145300032
Scopus ID 85173731134
PubMed ID 37794016
Erfassungsdatum 2023-11-28
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