Article
Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression.
The Journal of allergy and clinical immunology - 1 Apr 2020
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 excerpt
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 low-frequency and...
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