Ankylosing spondylitis (AS) is a chronic condition characterized by inflammation between the vertebrae in the spine as well as between the spine and the ankle joint, which can cause initial bone and joint erosion and induce joint stiffness. The pathogenesis of AS is related to genetic factors, immune factors and environmental factors. Studies have shown that the mutation of human leukocyte antigen B27 (HLA-B27) increases the risk of AS, and the prevalence of HLA-B27 positive individuals with family history of AS is 6-16 times as much as that of HLA-B27 positive individuals with no family history. After human CD4+T cells are stimulated by antigen, different cytokines are induced to differentiate into different subpopulations. The activation imbalance of two subtypes of Th1/Th2 is associated with inflammatory responses in a variety of autoimmune diseases. The pathogenesis of AS is associated with the increase in Th1 cytokines and the decrease in Th2 cytokines, but the role of specific Th1/Th2 cell populations, particularly Th1, in the pathogenesis of AS remains unclear. What’s more, studies have shown that the expression of TLR-4 in peripheral blood of patients with AS is elevated, suggesting that bacterial infection may be an important factor in the pathogenesis of AS.
The main physiological function of HLA-B27 is to present endogenous antigenic peptides to CD8+T cells, which are generally considered to be involved in the restricted recognition of T cells. Some studies believe that, under normal circumstances, HLA B27 is transferred to the cell surface in a fully folded mature state, but HLA-B27 is found to be slow to fold in the AS animal model. The reason may be that a large amount of unfolded protein accumulates in the endoplasmic reticulum and cannot be transported to the cell surface. The endoplasmic reticulum overload reaction activates related proinflammatory cytokines such as tumor necrosis factor (TNF) and interleukin (IL)-2, leading to the onset of AS. In addition to the recognized variation in the HLA-B27 gene, which is thought to be closely related to AS, there are other important candidate genes that are also associated with AS, mainly including HLA-B14, HLA-B60, HLA-B39, MMP3, TNF-α, TGF-β, HSP-70, IL-1, IL-Ira, LMP2, CYP2DG, etc. In addition, studies have shown that polymorphisms of ERAP1 affect the risk of AS disease in HLA-B27 positive individuals.
In order to better explore the relationship between gene changes and the occurrence and progression of ankylosing spondylitis, and to promote the development of targeted therapy, CD Genomics’ custom ankylosing spondylitis panel platform offers a comprehensive library of ankylosing spondylitis panels, from which you can choose for genetic testing of ankylosing spondylitis.
| CYP2DG | ERAP1 | HLA-B14 |
| HLA-B27 | HLA-B39 | HLA-B60 |
| HSP-70 | IL1A | IL-1Ra |
| IL23R | LMP2 | MMP3 |
| TNF-α | TGF-β |
For more information about the Custom Ankylosing Spondylitis Panel or need other amplification requirements, please contact us.
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