Genetic Susceptibility Of Cytotoxic T Lymphocyte-Associated Antigen 4 Gene Polymorphism In The Onset Of Arthritis

Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) gene plays a vital role in the activation of T-cells as a down regulator. CTLA-4 gene polymorphisms have implicated a potential risk factor for autoimmune disorders like arthritis. Therefore the current study was designed to determine the association of CTLA-4 gene polymorphism in the onset of rheumatoid and osteoarthritis in Pakistani individuals. Genotyping was performed on 300 RA, 316 OA, and 412 control subjects by direct sequencing method as well as polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. It was observed that allelic and genotypic frequency of rs5742909, rs231775, rs4553808, rs733618, and rs3087243 were significantly varied among patients and controls and considered as a significant risk factor in the onset of RA as well as OA. However, no mutation was identified on the rs11571317 polymorphic site. Haplotype CAGTCA and CAG TCG act as a protectant against disease onset whereas CAACCG was significant in disease onset. Mutation on rs231775 polymorphic site lead to the change of threonine into alanine It was concluded that CTLA-4 gene polymorphism is a significant risk factor in the onset of RA as well as OA. Large scale survey is required for the screening of the genetic markers for pre-diagnosis of the disease. SUMMARY STATEMENTThe study summarized that CTLA-4 gene polymorphism plays a key role in the arthritis onset in Pakistani population.