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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
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
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
Institute of Human Genetics (IHG)
Institute of Lung Health and Immunity (LHI)
PPM-MEX-Molecular EXposomics (MEX)