特应性皮炎全基因组关联研究进展

Genome-wide association studies of atopic dermatitis:a review

随着测序与分析技术的发展,近年来特应性皮炎(AD)的全基因组关联研究(GWAS)逐渐增加。本文系统地总结了AD的GWAS,发现自2009年以来共报道了11个AD的GWAS,以欧洲人群居多,仅见1个在中国汉族和1个在日本人群的报告。这些GWAS共发现36个染色体区域上76个SNPs与AD在全基因组水平上相关。相关基因主要与表皮皮肤屏障功能和免疫功能相关。这些发现为AD的精准分型和治疗带来新的视角。

With the development of sequencing and analytical techniques,there has been an increasing number of genomewide association studies(GWAS)of atopic dermatitis(AD)in recent years.This review aimed to summarize the findings from GWAS of AD.There have been 11 GWAS of AD since 2009.Most of them were conducted in European population,with only one in Han Chinese and one in Japanese population.These studies identified 76 SNPs in 36 chromosomal regions that were associated with AD at the genome-wide level.The relevant genes were mainly related to epidermal skin barrier function and immune function.These findings shed new light on precise classification and treatment of AD.