Division of Genetics and Molecular Medicine, King's College London, London, UK.
J Invest Dermatol. 2012 Mar;132(3 Pt 2):915-22. doi: 10.1038/jid.2011.395. Epub 2011 Dec 8.
Driven by advances in molecular genetic technologies and statistical analysis methodologies, there have been huge strides taken in dissecting the complex genetic basis of many inflammatory dermatoses. One example is psoriasis, for which application of classical linkage analysis and genome-wide association investigation has identified genetic loci of major and minor effect. Although most loci independently have modest genetic effects, they identify important biological pathways potentially relevant to disease pathogenesis and therapeutic intervention. In the case of psoriasis, these appear to involve the epidermal barrier, NF-κB mechanisms, and T helper type 17 adaptive immune responses. The advent of next-generation sequencing methods will permit a more detailed and complete map of disease genetic architecture, a key step in developing personalized medicine strategies in the clinical management of the complex inflammatory dermatoses.
受分子遗传学技术和统计分析方法进步的推动，在剖析许多炎症性皮肤病的复杂遗传基础方面已经取得了巨大进展。例如银屑病，应用经典连锁分析和全基因组关联研究已经确定了主要和次要效应的遗传位点。尽管大多数位点独立的遗传效应较小，但它们确定了与疾病发病机制和治疗干预相关的重要生物学途径。就银屑病而言，这些似乎涉及表皮屏障、NF-κB 机制和 T 辅助型 17 适应性免疫反应。下一代测序方法的出现将允许对疾病遗传结构进行更详细和完整的图谱绘制，这是在炎症性皮肤病的临床管理中开发个体化医学策略的关键步骤。
