Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Qld, Australia.
Immunol Rev. 2010 Jan;233(1):162-80. doi: 10.1111/j.0105-2896.2009.00852.x.
Ankylosing spondylitis (AS) is a common, highly heritable arthropathy, the pathogenesis of which is poorly understood. The mechanism by which the main gene for the disease, HLA-B27, leads to AS is unknown. Genetic and genomic studies have demonstrated involvement of the interleukin-23 (IL-23) signaling pathway in AS, a finding which has stimulated much new research into the disease and has led to therapeutic trials. Several other genes and genetic regions, including further major histocompatibility complex (MHC) and non-MHC loci, have been shown to be involved in the disease, but it is not clear yet how they actually induce the condition. These findings have shown that there is a strong genetic overlap between AS and Crohn's disease in particular, although there are also major differences in the genes involved in the two conditions, presumably explaining their different presentations. Genomic and proteomic studies are in an early phase but have potential both as diagnostic/prognostic tools and as a further hypothesis-free tool to investigate AS pathogenesis. Given the slow progress in studying the mechanism of association of HLA-B27 with AS, these may prove to be more fruitful approaches to investigating the pathogenesis of the disease.
强直性脊柱炎（AS）是一种常见的、高度遗传性的关节病，其发病机制尚不清楚。导致该病主要基因 HLA-B27 导致 AS 的机制尚不清楚。遗传和基因组研究表明，白细胞介素-23（IL-23）信号通路参与了 AS，这一发现激发了对该病的大量新研究，并导致了治疗试验。其他几个基因和遗传区域，包括进一步的主要组织相容性复合体（MHC）和非 MHC 基因座，也被证明与该病有关，但目前尚不清楚它们实际上是如何诱导这种情况的。这些发现表明，AS 与克罗恩病之间存在很强的遗传重叠，尽管两种疾病涉及的基因也存在很大差异，这可能解释了它们不同的表现。基因组和蛋白质组学研究仍处于早期阶段，但它们具有作为诊断/预后工具的潜力，并且作为一种无假设的进一步工具，可以研究 AS 的发病机制。鉴于研究 HLA-B27 与 AS 关联机制的进展缓慢，这些方法可能被证明是研究疾病发病机制的更有成效的方法。
