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Author Paternoster, L.; Standl, M.; Chen, C.-M.; Ramasamy, A.; Bonnelykke, K.; Duijts, L.; Ferreira, M.A.; Alves, A.C.; Thyssen, J.P.; Albrecht, E.; Baurecht, H.; Feenstra, B.; Sleiman, P.M.A.; Hysi, P.; Warrington, N.M.; Curjuric, I.; Myhre, R.; Curtin, J.A.; Groen-Blokhuis, M.M.; Kerkhof, M.; Saaf, A.; Franke, A.; Ellinghaus, D.; Folster-Holst, R.; Dermitzakis, E.; Montgomery, S.B.; Prokisch, H.; Heim, K.; Hartikainen, A.-L.; Pouta, A.; Pekkanen, J.; Blakemore, A.I.F.; Buxton, J.L.; Kaakinen, M.; Duffy, D.L.; Madden, P.A.; Heath, A.C.; Montgomery, G.W.; Thompson, P.J.; Matheson, M.C.; Le Souef, P.; St Pourcain, B.; Smith, G.D.; Henderson, J.; Kemp, J.P.; Timpson, N.J.; Deloukas, P.; Ring, S.M.; Wichmann, H.-E.; Muller-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.P.; Wjst, M.; Jogi, 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.T.; Thiering, E.; Illig, T.; Imboden, M.; Nystad, W.; Simpson, A.; Hottenga, J.-J.; Postma, D.; Koppelman, G.H.; Smit, H.A.; Soderhall, C.; Chawes, B.; Kreiner-Moller, E.; Bisgaard, H.; Melen, 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.V.; Gieger, C.; Strachan, D.P.; Martin, N.G.; Jarvelin, M.-R.; Heinrich, J.; Evans, D.M.; Weidinger, S. url  doi
  Title Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis Type
  Year (down) 2012 Publication Nature Genetics Abbreviated Journal Nat Genet  
  Volume 44 Issue 2 Pages 187-192  
  Keywords Cell Differentiation/genetics; Chromosomes, Human, Pair 11/genetics; Chromosomes, Human, Pair 20/genetics; Chromosomes, Human, Pair 5; Cytokines/genetics; DNA-Binding Proteins/genetics; Dermatitis, Atopic/*genetics/immunology; Epidermis/immunology; Female; *Genetic Loci; Genetic Predisposition to Disease; *Genome-Wide Association Study; Humans; Intermediate Filament Proteins/genetics; Kinesin/genetics; Male; Polymorphism, Single Nucleotide; Risk; Transcription Factors/genetics  
  Abstract 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 x 10(-13)) and rs2164983 near ACTL9 (OR = 1.16, P = 7.1 x 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 x 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.  
  Address Medical Research Council Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Bristol, UK  
  Corporate Author EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium Thesis  
  Impact Factor 29,352 First Author Paternoster, L Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Senior Author Weidinger, S.  
  ISSN 1061-4036 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:22197932; PMCID:PMC3272375 Approved no  
  Call Number Serial 66  
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