Institute for Biomedical Research of Salamanca (IBSAL), 37007, Salamanca, Spain.
Network for Cooperative Research in Health-RETICS ARADyAL, 37007 Salamanca, Spain.
Genes (Basel). 2020 Apr 18;11(4):442. doi: 10.3390/genes11040442.
Atopic dermatitis is a common inflammatory skin disorder that affects up to 15-20% of the population and is characterized by recurrent eczematous lesions with intense itching. As a heterogeneous disease, multiple factors have been suggested to explain the nature of atopic dermatitis (AD), and its high prevalence makes it necessary to periodically compile and update the new information available. In this systematic review, the focus is set at the genetic and epigenetic studies carried out in the last years.
A systematic literature review was conducted in three scientific publication databases (PubMed, Cochrane Library, and Scopus). The search was restricted to publications indexed from July 2016 to December 2019, and keywords related to atopic dermatitis genetics and epigenetics were used.
A total of 73 original papers met the inclusion criteria established, including 9 epigenetic studies. A total of 62 genes and 5 intergenic regions were described as associated with AD.
() polymorphisms are confirmed as key genetic determinants for AD development, but also epigenetic regulation and other genes with functions mainly related to the immune system and extracellular matrix, reinforcing the notion of skin homeostasis breakage in AD.
特应性皮炎是一种常见的炎症性皮肤疾病，影响人群高达 15-20%，其特征是反复出现湿疹样皮损，伴有剧烈瘙痒。作为一种异质性疾病，多种因素被认为可以解释特应性皮炎（AD）的性质，而其高发率使得定期编制和更新新的可用信息变得非常必要。在本次系统综述中，重点关注的是近年来进行的遗传和表观遗传研究。
在三个科学文献数据库（PubMed、Cochrane Library 和 Scopus）中进行了系统的文献检索。检索范围限定为 2016 年 7 月至 2019 年 12 月期间索引的出版物，并使用了与特应性皮炎遗传学和表观遗传学相关的关键词。
共有 73 篇原始论文符合既定的纳入标准，其中包括 9 项表观遗传学研究。共描述了 62 个基因和 5 个基因间区域与 AD 相关。
（）多态性被证实是 AD 发展的关键遗传决定因素，但也包括表观遗传调控和其他主要与免疫系统和细胞外基质功能相关的基因，这进一步证实了 AD 中皮肤稳态破坏的概念。
