Association of Non-Hla Genes With Ankylosing Spondylitis Publisher



Rahmati M¹ ; Hakemi MG¹
Source: Ankylosing Spondylitis - Axial Spondyloarthritis: Cellular, Molecular and Environmental Factors Published:2021

Abstract

The genetic context is almost always a risk factor for many diseases incidence. In fact, the abundant expression of some genes or the occurrence of some mutations makes the body susceptible to the diseases. For reacting the immune system to its own antigens, the presentation of these antigens to the immune system which is done by HLA is needed. Therefore, the role of different HLA loci in many autoimmune diseases has been demonstrated by scientists. In addition to adaptive immune responses, innate immune responses and secretion of cytokines, are also important in the onset of the diseases. After discovering the HLA-B27 as the major genetic AS risk factor for AS, it revealed that genetic tendency has a great impact on this disease. However, it was found that the HLA-B27 gene comprises just less than 50% of the genetic load for AS predisposition, and a large proportion of the susceptibility is related to other genes in non-HLA regions. For this reason, the various GWA studies have been designed and focused on the differences in genes, mutations, and epigenetic changes between the healthy and patient groups. In the following, we will discuss the role of different alleles and mutations of cytokines and cytokine-receptors, signaling proteins of immune cells, and also the effective structural proteins of collagen and bone in AS development. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2022.