Pediatric Allergology, Experimental and Clinical Research Center, Charité University Medicine and Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
Curr Opin Allergy Clin Immunol. 2013 Oct;13(5):478-86. doi: 10.1097/ACI.0b013e328364e8f7.
Eczema and other allergic disorders are complex diseases caused by multiple genetic and environmental factors. Here, we review recent success in the identification of novel susceptibility loci for eczema.
Genome-wide association studies led to marked progress in unraveling the genetic determinants of allergic disorders. In the past 4 years, a total of 14 new eczema susceptibility loci have been identified and nearly all of them were successfully replicated. Seven additional eczema loci were recently identified by alternative strategies utilizing the remarkable overlap in the genetic cause of diverse immune-related traits. Apart from underlining the importance of the skin barrier in eczema, these studies point to specific immunological functions altered in eczema pathogenesis.
The new findings demonstrate that common pathways are involved in the development of eczema and other immune-related traits. Moreover, the genetic determinants shared between eczema, asthma, and allergic rhinitis should aid in resolving the molecular mechanisms triggering disease progression along the atopic march. The identification of the underlying genes and causal variants will be the major challenge for upcoming studies.
特应性皮炎和其他过敏性疾病是由多种遗传和环境因素引起的复杂疾病。本文综述了特应性皮炎易感基因座鉴定方面的最新进展。
全基因组关联研究在阐明过敏性疾病的遗传决定因素方面取得了显著进展。在过去的 4 年中，共鉴定出 14 个新的特应性皮炎易感基因座，几乎所有基因座都成功得到了复制。最近，通过利用不同免疫相关特征遗传原因的显著重叠的替代策略，又确定了另外 7 个特应性皮炎基因座。除了强调皮肤屏障在特应性皮炎中的重要性外，这些研究还指出了特应性皮炎发病机制中改变的特定免疫功能。
新发现表明，特应性皮炎和其他免疫相关特征的发展涉及共同途径。此外，特应性皮炎、哮喘和过敏性鼻炎之间共享的遗传决定因素，将有助于阐明沿着特应性进程引发疾病进展的分子机制。确定潜在的基因和因果变异将是未来研究的主要挑战。
