Ankylosing spondylitis (AS) is a chronic inflammatory disease of unknown etiology, though it is considered an autoimmune disease. HLA-B27 is the risk factor most often associated with AS, and although the mechanism of involvement is unclear, the subtypes and other features of the relationship between HLA-B27 and AS have been studied for years. Additionally, the key role of IL-17 and Th17 cells in autoimmunity and inflammation suggests that the latter and the cytokines involved in their generation could play a role in the pathogenesis of this disease. Recent studies have described the sources of IL-17 and IL-23, as well as the characterization of Th17 cells in autoimmune diseases. Other cells, such as NK and regulatory T cells, have been implicated in autoimmunity and have been evaluated to ascertain their possible role in AS. Moreover, several polymorphisms, mutations and deletions in the regulatory proteins, protein-coding regions, and promoter regions of different genes involved in immune responses have been discovered and evaluated for possible genetic linkages to AS. In this review, we analyze the features of HLA-B27 and the suggested mechanisms of its involvement in AS while also focusing on the characterization of the immune response and the identification of genes associated with AS. 1. Introduction The spondyloarthropathies (SpA), now better denominated as spondyloarthritides (SpAs), are a diverse group of interrelated inflammatory arthritides that share multiple clinical features and common genetic predisposing factors. This group includes not only the prototypical disease, ankylosing spondylitis (AS), but also reactive arthritis (ReA), psoriatic arthritis (PsA), Crohn’s disease, undifferentiated SpA, and juvenile-onset spondyloarthritis [1]. The clinical features of AS include inflammatory back pain, asymmetrical peripheral oligoarthritis, enthesitis, and specific organ involvement, such as anterior uveitis, psoriasis, and chronic inflammatory bowel disease [2]. Its major clinical features include sacroilitis, loss of spinal mobility, and spinal inflammation. Chronic inflammation leads to fibrosis and ossification, where bridging spurs of bone known as syndesmophytes form, especially at the edges of the inter-vertebral discs, producing the ankylosing [3]. AS affects men more often than women, at a ratio of 2？:？1 [4]. The prevalence of the disease is between 0.1 and 1.4% of general populations [2]. Studies conducted in different countries have shown that the incidence of AS varies from 0.5 to 14 per 100,000 people per year [2]. Diagnoses of AS
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