Association of Hla and Hla-Related Genes With Ankylosing Spondylitis Publisher



Hakemi MG¹ Show Affiliations
Source: Ankylosing Spondylitis - Axial Spondyloarthritis: Cellular, Molecular and Environmental Factors Published:2021

Abstract

Major Histocompatibility Complex (MHC), firstly identified as the main factor determining the fate of organ transplantation, is involved in antigen presentation to T cells. Among the ever-increasing list of genes identified to be related to different autoimmune-inflammatory diseases, HLA loci have shown the strongest association. This is because of their role in antigen presentation to T lymphocytes and their involvement in the negative selection of auto-reactive thymocytes. One of the most striking associations between an autoimmune disorder and an HLA allele is for Ankylosing Spondylitis (AS) and HLA-B27. Several mechanisms have been proposed to explain how HLA-B27 can participate in the pathogenesis of AS. However, the association of other HLA loci and also HLA-related genes with AS has been evidenced. Epigenetics is another important player in the etiopathology of AS through affecting the expression of the genes involved in different physiologic and immunologic processes. In this chapter, we will explain the cutting-edge knowledge about the probable mechanisms through which, HLA-B27 plays a role in AS development. Then, we discuss other HLA and HLA-related genes shown to be associated with AS in different populations. At the end of the chapter, we describe the impact of epigenetics as another predisposing factor. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2022.