What Have We Learned from GWAS for Atopic Dermatitis?
What Have We Learned from GWAS for Atopic Dermatitis?
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DOI：
10.1016/j.jid.2020.05.100
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发表时间：
2021-01-01
影响因子：
6.5
通讯作者：
Brown, Sara J.
中科院分区：
文献类型：
--
作者：
Brown, Sara J.
GWAS已发现与特应性皮炎(AD)相关的多个基因座。其中一些已经证实了先前存在的知识，包括皮肤屏障和2型炎症在AD发病机制中的作用，而另一些则提供了更新的见解，包括自身免疫的证据和以前未被识别的控制表皮分化的基因。大多数危险基因座位于基因间隔区，其作用机制尚不清楚(S)。这些基因座需要在与AD相关的细胞和组织中进行详细的分子研究。到目前为止，基因组研究结果约占AD遗传率的30%，因此，需要做大量的进一步工作来充分了解个体风险。
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.