Faculty of Medicine and Genetics, Memorial University of Newfoundland, 154 LeMarchant Rd, St. John's, Newfoundland and Labrador, A1C 5B8, Canada.
Curr Rheumatol Rep. 2018 Jun 27;20(8):51. doi: 10.1007/s11926-018-0756-y.
The purpose of this review is to highlight recent evidence with respect to expression and metabolomic profiling in axial spondyloarthritis (axSpA) that included ankylosing spondylitis (AS).
AxSpA is not only characterized by the strongest genetic contribution for any complex rheumatic disease but is also influenced by environmental and immunological factors. Large-scale association-based studies have identified over 100 genetic variants contributing to 30% of the genetic risk of ankylosing spondylitis. Recent studies in global expression and metabolomic profiling appear to highlight common themes despite differences in tissues, populations, techniques, and relative paucity of patients in many of these studies. Expression studies support a role for immunomodulation and bone remodeling in the pathogenesis and progression of axSpA/AS, while metabolomic studies implicate the importance of the intestinal microbial metabolism as well as fat and choline metabolic pathways in AS.
本文旨在强调最近在轴性脊柱关节炎（axSpA）中发现的与强直性脊柱炎（AS）相关的表达和代谢组学特征的研究进展。
axSpA 不仅是所有复杂风湿性疾病中受遗传因素影响最强的疾病，而且还受到环境和免疫因素的影响。基于关联的大规模研究已经确定了超过 100 个遗传变异，这些变异导致 30%的强直性脊柱炎遗传风险。尽管在这些研究中，许多研究的组织、人群、技术和患者相对较少，但全球表达和代谢组学特征的最新研究似乎凸显了一些共同的主题。表达研究支持免疫调节和骨重塑在 axSpA/AS 的发病机制和进展中的作用，而代谢组学研究表明肠道微生物代谢以及脂肪和胆碱代谢途径在 AS 中的重要性。
