PDF(Pubmed)
Abstract：
Spondylarthritis (SpA) is a chronic inflammatory condition that encompasses damage to the axial or peripheral skeleton, accompanied by specific extra-articular symptoms. Within this group, Ankylosing Spondylitis stands out as the hallmark member. Although the heritability of Ankylosing Spondylitis is estimated to be over 95%, only a portion of the heritability has been explained, with HLA-B27 accounting for 20.1% of it; therefore, ongoing research endeavors are currently concentrated on investigating the potential participation of different entities in the development of the disease. Genome-wide association studies have led to significant advances in our understanding of the genetics of SpA. In this descriptive review, we delve into the pathogenesis of Spondylarthritis beyond HLA-B27. We summarize the latest research on the potential participation of various entities in the development of the disease, including other genetic loci, immune dysregulation, microbiota, and environmental factors. The multifactorial nature of SpA and the complex interplay of genetic, immunological, and environmental factors are being increasingly recognized; therefore, it is of paramount importance to consider a holistic approach to comprehend the pathogenesis of SpA in order to identify novel therapeutic targets.
摘要：
脊椎关节炎（SpA）是一种慢性炎症性疾病，包括对轴向或外周骨骼的损害，伴有特定的关节外症状。在这个群体中,强直性脊柱炎是标志性成员。尽管强直性脊柱炎的遗传率估计超过95％，只有一部分的遗传力得到了解释，HLA-B27占其20.1%；因此，目前正在进行的研究工作集中在调查不同实体在疾病发展中的潜在参与。全基因组关联研究导致我们对SpA遗传学的理解取得了重大进展。在这份描述性审查中，我们深入研究了HLA-B27以外的脊椎关节炎的发病机制。我们总结了各种实体在疾病发展中潜在参与的最新研究，包括其他遗传基因座,免疫失调，微生物群,和环境因素。SpA的多因素性质和遗传的复杂相互作用，免疫学，和环境因素越来越被认识到；因此，为了确定新的治疗靶点,考虑一种全面的方法来理解SpA的发病机制至关重要.
