GJG, 2020; 1(1):2-9.

Review

Ankylosing Spondylitis Associated Gene Polymorphism

Shuo Li 1,2,*,✉, Yu-Ming Wang 3,4,*

1 Department of Laboratory Medicine, The Second Clinical Medical College, Yangtze University, Jingzhou, Hubei 434023, China; 
2 School of Basic Medicine, Health Science Center, Yangtze University, Jingzhou, Hubei 434023, China; 
3 Department of Spinal and Neural Function Reconstruction, Beijing Bo'ai Hospital, China Rehabilitation Research Center, Beijing 100068, China; 
4 Capital Medical University School of Rehabilitation Medicine, Beijing 100068, China.

*, These authors contributed equally.
✉, Correspondence
Shuo Li, Department of Laboratory Medicine, the Second Clinical Medical College, Yangtze University, Jingzhou, Hubei 434023, China. Email: [email protected]. Telephone number: 86-18372637673. 
Received: May 5, 2019. Accepted: November 27, 2019. Published online: Jan. 1, 2019.
Cite this paper: Li, S. and Wang, Y.M. (2020) Ankylosing Spondylitis Associated Gene Polymorphism. Global Journal of Genetics, 1(1): 2-9. https://naturescholars.com/gjg.010102. https://doi.org/00.0000/gjg.010102.
Copyright© 2020 by Scholars Publishing, LLC.

Abstract

Ankylosing Spondylitis (AS) is an autoimmune arthritis disease, mostly found in 20-30 years old adolescents. Genetic factors play an important role in the pathogenesis of AS. It is generally believed that the disease is a polygenic hereditary disease and has strong correlation with human leukocyte antigen B27 (HLA-B27). But the mechanism is still unclear. In recent years, it has been found that endoplasmic reticulum aminopeptidase1 (ERAP-1) gene, tumor necrosis factor-α (TNF-α) gene, interleukin gene, and cytotoxic T lymphocyte associated antigen 4 (CTLA-4) gene are also correlated with the pathogenesis of AS. The research on these related genes can provide a basis for the diagnosis of AS. This article reviews the mechanism and polymorphism of these genes in AS.

Key word: Ankylosing spondylitis (AS); Human leukocyte antigen B27 gene (HLA-B27); Endoplasmic reticulum aminopeptidase1 gene (ERAP-1); Interleukin 23 receptor gene (IL-23R); Cytotoxic T lymphocyte associated antigen-4 gene (CTLA-4).