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从遗传学研究看银屑病关节炎的发病机制。

Insights into the pathogenesis of psoriatic arthritis from genetic studies.

机构信息

Schroeder Arthritis Institute, Krembil Research Institute, University Heath Network, Toronto, Ontario, Canada.

Department of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland and Labrador, Canada.

出版信息

Semin Immunopathol. 2021 Apr;43(2):221-234. doi: 10.1007/s00281-021-00843-2. Epub 2021 Mar 12.

Abstract

Psoriatic arthritis (PsA) is a relatively common inflammatory arthritis, a spondyloarthritis (SpA), that occurs most often in patients with psoriasis, a common immune-mediated inflammatory skin disease. Both psoriasis and PsA are highly heritable. Genetic and recent genomic studies have identified variants associated with psoriasis and PsA, but variants differentiating psoriasis from PsA are few. In this review, we describe recent developments in understanding the genetic burden of PsA, linkage, association and epigenetic studies. Using pathway analysis, we provide further insights into the similarities and differences between PsA and psoriasis, as well as between PsA and other immune-mediated inflammatory diseases, particularly ankylosing spondylitis, another SpA. Environmental factors that may trigger PsA in patients with psoriasis are also reviewed. To further understand the pathogenetic differences between PsA and psoriasis as well as other SpA, larger cohort studies of well-phenotyped subjects with integrated analysis of genomic, epigenomic, transcriptomic, proteomic and metabolomic data using interomic system biology approaches are required.

摘要

银屑病关节炎(PsA)是一种较为常见的炎症性关节炎,属于脊柱关节炎(SpA),多发生于银屑病患者,银屑病是一种常见的免疫介导的炎症性皮肤病。银屑病和 PsA 均具有高度遗传性。遗传和近期基因组研究已确定了与银屑病和 PsA 相关的变异,但区分银屑病和 PsA 的变异较少。在这篇综述中,我们描述了对 PsA 遗传负担、连锁、关联和表观遗传研究的最新进展。通过通路分析,我们进一步深入了解了 PsA 与银屑病以及与其他免疫介导的炎症性疾病(尤其是另一种 SpA——强直性脊柱炎)之间的异同。我们还回顾了可能在银屑病患者中引发 PsA 的环境因素。为了进一步了解 PsA 与银屑病以及其他 SpA 之间的发病机制差异,需要对具有良好表型的受试者进行更大规模的队列研究,并使用组间系统生物学方法对基因组、表观基因组、转录组、蛋白质组和代谢组数据进行综合分析。

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