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Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression

Mucha, Sören ; Baurecht, Hansjörg ; Novak, Natalija ; Rodríguez, Elke ; Bej, Saptarshi ; Mayr, Gabriele ; Emmert, Hila ; Stölzl, Dora ; Gerdes, Sascha ; Jung, Eun Suk ; Degenhardt, Frauke ; Hübenthal, Matthias ; Ellinghaus, Eva ; Kässens, Jan Christian ; Wienbrandt, Lars ; Lieb, Wolfgang ; Müller-Nurasyid, Martina ; Hotze, Melanie ; Dand, Nick ; Grosche, Sarah ; Marenholz, Ingo ; Arnold, Andreas ; Homuth, Georg ; Schmidt, Carsten O. ; Wehkamp, Ulrike ; Nöthen, Markus M. ; Hoffmann, Per ; Paternoster, Lavinia ; Standl, Marie ; Bønnelykke, Klaus ; Ahluwalia, Tarunveer S. ; Bisgaard, Hans ; Peters, Annette ; Gieger, Christian ; Waldenberger, Melanie ; Schulz, Holger ; Strauch, Konstantin ; Werfel, Thomas ; Lee, Young-Ae ; Wolfien, Markus ; Rosenstiel, Philip ; Wolkenhauer, Olaf ; Schreiber, Stefan ; Franke, Andre ; Weidinger, Stephan ; Ellinghaus, David



Abstract

Background: Fifteen percent of atopic dermatitis (AD) liability-scale heritability could be attributed to 31 susceptibility loci identified by using genome-wide association studies, with only 3 of them (IL13, IL-6 receptor [IL6R], and filaggrin [FLG]) resolved to protein-coding variants. Objective: We examined whether a significant portion of unexplained AD heritability is further explained by ...

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