强直性脊柱炎的遗传学研究——现状及临床转化。
Genetics in ankylosing spondylitis - Current state of the art and translation into clinical outcomes.
机构信息
Translational Genomics Group, Institute of Health and Biomedical Innovation, Translational Research Institute, Queensland University of Technology, Brisbane, Australia.
Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
出版信息
Best Pract Res Clin Rheumatol. 2017 Dec;31(6):763-776. doi: 10.1016/j.berh.2018.09.005. Epub 2018 Oct 3.
Ankylosing spondylitis (AS) is the prototypic form of axial spondyloarthritis (axSpA). It is highly heritable, with studies conducted in twins and in unrelated cases and controls showing that the heritability for AS is much higher than those for inflammatory bowel disease or rheumatoid arthritis. To date, 116 loci have been identified, contributing to 28% of the genetic variation in the disease. These loci provide important clues into pathogenic pathways in the disease that have led to therapeutic advances such as the repositioning of IL-17 inhibitors in the disease. Much more research is currently required to determine the functional mechanisms by which the genetic associations operate, from which it is likely that novel therapeutic approaches will be developed.
强直性脊柱炎（AS）是轴性脊柱关节炎（axSpA）的典型形式。它具有高度遗传性，通过对双胞胎和无血缘关系的病例和对照进行的研究表明，AS 的遗传性远高于炎症性肠病或类风湿关节炎。迄今为止，已经确定了 116 个位点，这些位点对疾病的遗传变异有 28%的贡献。这些位点为疾病的发病机制提供了重要线索，这导致了治疗方法的进步，例如将 IL-17 抑制剂重新定位到疾病中。目前还需要进行更多的研究来确定遗传关联的作用机制，从中很可能开发出新的治疗方法。
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