Cytotoxic T-Lymphocyte Antigen-4+49G/A Polymorphism Is Associated with Increased Risk of Osteosarcoma

Background: Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a potent immunoregulatory molecule that suppresses anti-tumor response by down-regulating T-cell activation. CTLA-4 gene + 49G/A polymorphism (rs231775) has been reported to be associated with various cancers. Objective: The objective of this study is to investigate the association between CTLA-4 gene + 49G/A polymorphism and the susceptibility to osteosarcoma in the Chinese population. Methods: The CTLA-4 variant + 49G/A was detected by polymerase chain reaction-restriction fragment length polymorphism in 205 osteosarcoma cases and 216 age-matched healthy controls. Data were analyzed using the Chi-square test. Results: Frequencies of the CTLA-4 + 49AA genotype and the + 49A allele were significantly increased in patients with osteosarcoma compared to healthy controls (OR 2.27, p = 0.010, and OR 1.41, p = 0.015). Conclusions: Our data suggest that the + 49G/A polymorphism of CTLA-4 gene is associated with increased susceptibility to osteosarcoma.