Article
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
Nature communications - 16 Nov 2021
Grosche Sarah, Marenholz Ingo, Esparza-Gordillo Jorge, Arnau-Soler Aleix, Pairo-Castineira Erola, Rüschendorf Franz, Ahluwalia Tarunveer S, Almqvist Catarina, Arnold Andreas, Baurecht Hansjörg, Bisgaard Hans, Bønnelykke Klaus, Brown Sara J, Bustamante Mariona, Curtin John A, Custovic Adnan, Dharmage Shyamali C, Esplugues Ana, Falchi Mario, Fernandez-Orth Dietmar, Ferreira Manuel A R, Franke Andre, Gerdes Sascha, Gieger Christian, Hakonarson Hakon, Holt Patrick G, Homuth Georg, Hubner Norbert, Hysi Pirro G, Jarvelin Marjo-Riitta, Karlsson Robert, Koppelman Gerard H, Lau Susanne, Lutz Manuel, Magnusson Patrik K E, Marks Guy B, Müller-Nurasyid Martina, Nöthen Markus M, Paternoster Lavinia, Pennell Craig E, Peters Annette, Rawlik Konrad, Robertson Colin F, Rodriguez Elke, Sebert Sylvain, Simpson Angela, Sleiman Patrick M A, Standl Marie, Stölzl Dora, Strauch Konstantin, Szwajda Agnieszka, Tenesa Albert, Thompson Philip J, Ullemar Vilhelmina, Visconti Alessia, Vonk Judith M, Wang Carol A, Weidinger Stephan, Wielscher Matthias, Worth Catherine L, Xu Chen-Jian, Lee Young-Ae
Abstract excerpt
Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels. We identify...
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