银屑病的遗传学基础。
The Genetic Basis of Psoriasis.
机构信息
Department of Medical and Molecular Genetics, School of Basic and Biomedical Sciences, King's College London, London SE1 9RT, UK.
出版信息
Int J Mol Sci. 2017 Nov 25;18(12):2526. doi: 10.3390/ijms18122526.
Abstract
Psoriasis is widely regarded as a multifactorial condition which is caused by the interaction between inherited susceptibility alleles and environmental triggers. In the last decade, technological advances have enabled substantial progress in the understanding of disease genetics. Genome-wide association studies have identified more than 60 disease susceptibility regions, highlighting the pathogenic involvement of genes related to Th17 cell activation. This pathway has now been targeted by a new generation of biologics that have shown great efficacy in clinical trials. At the same time, the study of rare variants of psoriasis has identified interleukin (IL)-36 cytokines as important amplifiers of Th17 signaling and promising targets for therapeutic intervention. Here, we review these exciting discoveries, which highlight the translational potential of genetic studies.
摘要
银屑病被广泛认为是一种多因素疾病，是由遗传易感等位基因和环境触发因素相互作用引起的。在过去的十年中，技术的进步使得人们对疾病遗传学的理解取得了实质性的进展。全基因组关联研究已经确定了 60 多个疾病易感性区域，突出了与 Th17 细胞激活相关的基因的致病作用。这一途径现在已经成为新一代生物制剂的靶点，这些生物制剂在临床试验中显示出了很好的疗效。与此同时，对银屑病罕见变异的研究已经确定白细胞介素 (IL)-36 细胞因子是 Th17 信号的重要放大器，也是治疗干预的有前途的靶点。在这里，我们回顾这些令人兴奋的发现，这些发现突出了遗传研究的转化潜力。
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