Morar Nilesh, Willis-Owen Saffron A G, Moffatt Miriam F, Cookson William O C M
Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
J Allergy Clin Immunol. 2006 Jul;118(1):24-34; quiz 35-6. doi: 10.1016/j.jaci.2006.03.037. Epub 2006 May 19.
Atopic dermatitis (AD) is a chronic itching (pruritic) skin disease. It results from a complex interplay between strong genetic and environmental factors. Genome screens of families with AD have implicated chromosomal regions that overlap with other skin diseases and with inflammatory and autoimmune diseases. These, together with candidate gene studies, provide novel insights into the pathogenesis of AD. The findings suggest a common theme of generalized epidermal dysfunction manifesting as a compromised skin barrier and failure to protect against, or aberrant responses to, microbial insults and antigens. Recent genetic advances with high-throughput methods for gene identification, such as DNA microarrays and whole-genome genotyping, will help further dissect this complex trait. This will aid disease-defining criteria and focused therapies for AD.
特应性皮炎（AD）是一种慢性瘙痒性皮肤病。它是由强大的遗传因素和环境因素之间复杂的相互作用导致的。对患有特应性皮炎的家庭进行的基因组筛查发现了一些与其他皮肤病以及炎症和自身免疫性疾病重叠的染色体区域。这些发现，连同候选基因研究，为特应性皮炎的发病机制提供了新的见解。研究结果表明，普遍存在的表皮功能障碍的一个共同主题表现为皮肤屏障受损，无法抵御微生物侵害和抗原，或对其产生异常反应。最近在基因鉴定的高通量方法方面取得的遗传学进展，如DNA微阵列和全基因组基因分型，将有助于进一步剖析这一复杂性状。这将有助于确定特应性皮炎的疾病定义标准和针对性治疗方法。
