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

Lavinia Paternoster*, Marie Standl, Chih Mei Chen, Adaikalavan Ramasamy, Klaus Bøpnnelykke, Liesbeth Duijts, Manuel A. Ferreira, Alexessander Couto Alves, Jacob P. Thyssen, Eva Albrecht, Hansjörg Baurecht, Bjarke Feenstra, Patrick M.A. Sleiman, Pirro Hysi, Nicole M. Warrington, Ivan Curjuric, Ronny Myhre, John A. Curtin, Maria M. Groen-Blokhuis, Marjan KerkhofAnnika Sääf, Andre Franke, David Ellinghaus, Regina Fölster-Holst, Emmanouil Dermitzakis, Stephen B. Montgomery, Holger Prokisch, Katharina Heim, Anna Liisa Hartikainen, Anneli Pouta, Juha Pekkanen, Alexandra I.F. Blakemore, Jessica L. Buxton, Marika Kaakinen, David L. Duffy, Pamela A. Madden, Andrew C. Heath, Grant W. Montgomery, Philip J. Thompson, Melanie C. Matheson, Peter Le Souëf, Beate St Pourcain, George Davey Smith, John Henderson, John P. Kemp, Nicholas J. Timpson, Panos Deloukas, Susan M. Ring, H. Erich Wichmann, Martina Müller-Nurasyid, Natalija Novak, Norman Klopp, Elke Rodríguez, Wendy McArdle, Allan Linneberg, Torkil Menné, Ellen A. Nohr, Albert Hofman, André G. Uitterlinden, Cornélia M. Van Duijn, Fernando Rivadeneira, Johan C. De Jongste, Ralf J.P. Van Der Valk, Matthias Wjst, Rain Jogi, Frank Geller, Heather A. Boyd, Jeffrey C. Murray, Cecilia Kim, Frank Mentch, Michael March, Massimo Mangino, Tim D. Spector, Veronique Bataille, Craig E. Pennell, Patrick G. Holt, Peter Sly, Carla M.T. Tiesler, Elisabeth Thiering, Thomas Illig, Medea Imboden, Wenche Nystad, Angela Simpson, Jouke Jan Hottenga, Dirkje Postma, Gerard H. Koppelman, Henriette A. Smit, Cilla Söderhäll, Bo Chawes, Eskil Kreiner-Møpller, Hans Bisgaard, Erik Melén, Dorret I. Boomsma, Adnan Custovic, Bo Jacobsson, Nicole M. Probst-Hensch, Lyle J. Palmer, Daniel Glass, Hakon Hakonarson, Mads Melbye, Deborah L. Jarvis, Vincent W.V. Jaddoe, Christian Gieger, David P. Strachan, Nicholas G. Martin, Marjo Riitta Jarvelin, Joachim Heinrich, David M. Evans, Stephan Weidinger

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

247 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)187-192
Number of pages6
JournalNature Genetics
Issue number2
Publication statusPublished - Feb 2012
Externally publishedYes


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