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Paternoster, L.* ; Standl, M. ; Chen, C.M.* ; Ramasamy, A.* ; Bønnelykke, K.* ; Duijts, L.* ; Ferreira, M.A.* ; Alves, A.C.* ; Thyssen, J.P.* ; Albrecht, E. ; Baurecht, H.* ; Feenstra, B.* ; Sleiman, P.M.* ; Hysi, P.* ; Warrington, N.M.* ; Curjuric, I.* ; Myhre, R.* ; Curtin, JA.* ; Groen-Blokhuis, M.M.* ; Kerkhof, M.* ; Saaf, A.* ; Franke, A.* ; Ellinghaus, D.* ; Fölster-Holst, R.* ; Dermitzakis, E.* ; Montgomery, S.B.* ; Prokisch, H. ; Heim, K. ; Hartikainen, A.L.* ; Pouta, A.* ; Pekkanen, J.* ; Blakemore, A.I.* ; Buxton, J.L.* ; Kaakinen, M.* ; Duffy, D.L.* ; Madden, P.A.* ; Heath, A.C.* ; Montgomery, G.W.* ; Thompson, P.J.* ; Matheson, M.C.* ; Le, Souëf, P* ; Australian Asthma Genetics Consortium (AAGC) (*) ; Pourcain, B.S.* ; Smith, G.D.* ; Henderson, J.* ; Kemp, J.P.* ; Timpson, N.J.* ; Deloukas, P.* ; Ring, S.M.* ; Wichmann, H.-E. ; Müller-Nurasyid, M. ; Novak, N.* ; Klopp, N. ; Rodriguez, E. ; McArdle, W.* ; Linneberg, A.* ; Menne, T.* ; Nohr, E.A.* ; Hofman, A.* ; Uitterlinden, A.G.* ; van Duijn, C.M.* ; Rivadeneira, F.* ; de Jongste, J.C.* ; van der Valk, R.J.* ; Wjst, M. ; Jõgi, R.* ; Geller, F.* ; Boyd, H.A.* ; Murray, J.C.* ; Kim, C.* ; Mentch, F.* ; March, M.* ; Mangino, M.* ; Spector, T.D.* ; Bataille, V.* ; Pennell, C.E.* ; Holt, P.G.* ; Sly, P.* ; Tiesler, C.M. ; Thiering, E. ; Illig, T. ; Imboden, M.* ; Nystad, W.* ; Simpson, A.* ; Hottenga, J.J.* ; Postma, D.* ; Koppelman, G.H.* ; Smit, H.A.* ; Söderhäll, C.* ; Chawes, B.* ; Kreiner-Møller, E.* ; Bisgaard, H.* ; Melén, E.* ; Boomsma, D.I.* ; Custovic, A.* ; Jacobsson, B.* ; Probst-Hensch, N.M.* ; Palmer, L.J.* ; Glass, D.* ; Hakonarson, H.* ; Melbye, M.* ; Jarvis, D.L.* ; Jaddoe, V.W.* ; Gieger, C. ; Genetics of Overweight Young Adults (GOYA) Consortium (*) ; Strachan, D.P.* ; Martin, N.G.* ; Jarvelin, M.R.* ; Heinrich, J. ; Evans, D.M* ; EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium (*) ; Weidinger, S.*

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.

Nat. Genet. 44, 187-192 (2012)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Atopic dermatitis (AD) is a commonly occurring chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing atopic dermatitis are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 affected individuals and 20,565 controls from 16 population-based cohorts and then examined the ten most strongly associated new susceptibility loci in an additional 5,419 affected individuals and 19,833 controls from 14 studies. Three SNPs reached genome-wide significance in the discovery and replication cohorts combined, including rs479844 upstream of OVOL1 (odds ratio (OR) = 0.88, P = 1.1 × 10(-13)) and rs2164983 near ACTL9 (OR = 1.16, P = 7.1 × 10(-9)), both of which are near genes that have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster at 5q31.1 (OR = 1.11, P = 3.8 × 10(-8)). We also replicated association with the FLG locus and with two recently identified association signals at 11q13.5 (rs7927894; P = 0.008) and 20q13.33 (rs6010620; P = 0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in atopic dermatitis pathogenesis.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords no keywords
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 44, Issue: 2, Pages: 187-192 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
Institute of Human Genetics (IHG)
CCG Environmental Dermatology and Allergology (ILBD-KAU)
Institute of Epidemiology (EPI)
Institute of Lung Biology (LHI)
PPM-MEX-Molecular EXposomics (MEX)