학술논문
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
Document Type
article
Author
Sarah Grosche; Ingo Marenholz; Jorge Esparza-Gordillo; Aleix Arnau-Soler; Erola Pairo-Castineira; Franz Rüschendorf; Tarunveer S. Ahluwalia; Catarina Almqvist; Andreas Arnold; Australian Asthma Genetics Consortium (AAGC); Hansjörg Baurecht; Hans Bisgaard; Klaus Bønnelykke; Sara J. Brown; Mariona Bustamante; John A. Curtin; Adnan Custovic; Shyamali C. Dharmage; Ana Esplugues; Mario Falchi; Dietmar Fernandez-Orth; Manuel A. R. Ferreira; Andre Franke; Sascha Gerdes; Christian Gieger; Hakon Hakonarson; Patrick G. Holt; Georg Homuth; Norbert Hubner; Pirro G. Hysi; Marjo-Riitta Jarvelin; Robert Karlsson; Gerard H. Koppelman; Susanne Lau; Manuel Lutz; Patrik K. E. Magnusson; Guy B. Marks; Martina Müller-Nurasyid; Markus M. Nöthen; Lavinia Paternoster; Craig E. Pennell; Annette Peters; Konrad Rawlik; Colin F. Robertson; Elke Rodriguez; Sylvain Sebert; Angela Simpson; Patrick M. A. Sleiman; Marie Standl; Dora Stölzl; Konstantin Strauch; Agnieszka Szwajda; Albert Tenesa; Philip J. Thompson; Vilhelmina Ullemar; Alessia Visconti; Judith M. Vonk; Carol A. Wang; Stephan Weidinger; Matthias Wielscher; Catherine L. Worth; Chen-Jian Xu; Young-Ae Lee
Source
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Subject
Language
English
ISSN
2041-1723
Abstract
Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema. Over 20% of the heritability of the condition is attributable to rare variants.