全基因组关联研究
特应性皮炎
遗传关联
候选基因
生物
遗传学
疾病
基因
免疫学
单核苷酸多态性
医学
基因型
病理
作者
Mayumi Tamari,Tomomitsu Hirota
标识
DOI:10.1111/1346-8138.12321
摘要
Atopic dermatitis is a common inflammatory disease caused by a combination of genetic and environmental factors. Genome-wide association study (GWAS) is a comprehensive and unbiased approach to identify the genetic components of human diseases and to discover the cellular pathways underlying them. GWAS and recent immunochip analysis of atopic dermatitis have identified a total of 19 associated loci with a genome-wide level of significance (P < 5 × 10−8). The candidate genes identified by GWAS suggest a role for epidermal barrier functions, innate-adaptive immunity, interleukin-1 family signaling, regulatory T cells, the vitamin D pathway and the nerve growth factor pathway in the pathogenesis of atopic dermatitis. Combinations of these genetic factors may influence a wide range of phenotypes of atopic dermatitis among individuals. Although a more complete collection of associated genes and pathways is needed, genetic components revealed by GWAS provide valuable insights into the pathophysiology of atopic dermatitis.
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