Johns Hopkins Asthma & Allergy Center, 5501 Hopkins Bayview Circle, Room 3A.62, Baltimore, MD 21224, USA.
J Allergy Clin Immunol. 2010 Jan;125(1):16-29.e1-11; quiz 30-1. doi: 10.1016/j.jaci.2009.11.008.
A genetic basis for atopic dermatitis (AD) has long been recognized. Historic documents allude to family history of disease as a risk factor. Before characterization of the human genome, heritability studies combined with family-based linkage studies supported the definition of AD as a complex trait in that interactions between genes and environmental factors and the interplay between multiple genes contribute to disease manifestation. A summary of more than 100 published reports on genetic association studies through mid-2009 implicates 81 genes, in 46 of which at least 1 positive association with AD has been demonstrated. Of these, the gene encoding filaggrin (FLG) has been most consistently replicated. Most candidate gene studies to date have focused on adaptive and innate immune response genes, but there is increasing interest in skin barrier dysfunction genes. This review examines the methods that have been used to identify susceptibility genes for AD and how the underlying pathology of this disease has been used to select candidate genes. Current challenges and the potential effect of new technologies are discussed.
特应性皮炎（AD）的遗传基础早已被认识到。历史文献提到疾病家族史是一个风险因素。在人类基因组被描述之前，遗传力研究结合基于家族的连锁研究支持了 AD 作为一种复杂特征的定义，因为基因和环境因素之间的相互作用以及多个基因之间的相互作用导致了疾病的表现。通过 2009 年年中发表的 100 多项关于遗传关联研究的报告的总结表明，81 个基因中至少有 1 个与 AD 有阳性关联。其中，编码丝聚合蛋白（FLG）的基因最具重复性。迄今为止，大多数候选基因研究都集中在适应性和先天免疫反应基因上，但对皮肤屏障功能障碍基因的兴趣日益增加。这篇综述检查了用于识别 AD 易感基因的方法，以及如何利用该疾病的潜在病理学来选择候选基因。讨论了当前的挑战和新技术的潜在影响。
