What Have We Learned from GWAS for Atopic Dermatitis?

被引：26

作者：

Brown, Sara J. ^{[1
]}

机构：

[1] Univ Dundee, Sch Med, Div Mol & Clin Med, Skin Res Grp, Dundee DD1 9SY, Scotland

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2021年 / 141卷 / 01期

基金：

英国惠康基金;

关键词：

ECZEMA; DISEASE; VARIANT; RISK; ASSOCIATION; MECHANISMS; MUTATIONS; GENOMICS;

D O I：

10.1016/j.jid.2020.05.100

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

GWASs have revealed multiple loci associated with atopic dermatitis (AD). Some have confirmed pre-existing knowledge, including the role of skin barrier and type 2 inflammation in AD pathogenesis, whereas others have provided newer insights, including evidence of autoimmunity and previously unrecognized genes controlling epidermal differentiation. The majority of risk loci are in intergenic regions for which functional mechanism(s) remain unknown. These loci require detailed molecular studies carried out in cells and tissues of relevance to AD. Genomic findings to date account for similar to 30% of AD heritability, therefore, considerable further work is needed to fully understand individual risk.

引用

页码：19 / 22

页数：4

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