Immunology Department, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iași, Romania.
Rheumatology Department, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iași, Romania.
Int J Mol Sci. 2024 May 31;25(11):6081. doi: 10.3390/ijms25116081.
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.
脊柱关节炎(SpA)是一种慢性炎症性疾病,包括轴向或外周骨骼的损伤,并伴有特定的关节外症状。在这组疾病中,强直性脊柱炎是其标志性成员。虽然强直性脊柱炎的遗传性估计超过 95%,但只有一部分遗传性得到了解释,其中 HLA-B27 占 20.1%;因此,目前正在进行的研究工作集中在研究不同实体在疾病发展中的潜在参与。全基因组关联研究使我们对 SpA 的遗传学有了更深入的了解。在本描述性综述中,我们深入探讨了 HLA-B27 以外的脊柱关节炎发病机制。我们总结了关于各种实体在疾病发展中的潜在参与的最新研究,包括其他遗传位点、免疫失调、微生物群和环境因素。SpA 的多因素性质以及遗传、免疫和环境因素的复杂相互作用越来越受到重视;因此,考虑采用整体方法来理解 SpA 的发病机制以确定新的治疗靶点至关重要。