title: Cytotoxic T-lymphocyte antigen-4 polymorphisms and susceptibility to osteosarcoma.
abstract: Despite the knowledge of many genetic alterations present in osteosarcoma, the complexity of this disease precludes placing its biology into a simple conceptual framework. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) plays important roles in downregulating T-cell activation, thereby attenuating anti-tumor responses and increasing cancer susceptibility. Polymorphisms in the CTLA-4 gene are associated with different autoimmune diseases and cancers. The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with osteosarcoma in the Chinese population. CTLA-4 polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism in 267 osteosarcoma patients and 282 age-matched healthy controls. Results showed that the CTLA-4 gene +49 AA genotype, +49 A allele, and GTAG haplotype were significantly more frequent in osteosarcoma patients than in controls (odds ratio [OR] 2.20, 95% confidence interval [CI] 1.23-2.95, p = 0.007; OR 1.32, 95% CI 1.03-1.69, p = 0.029, and OR = 1.47, 95% CI 1.03-2.09, p = 0.033, respectively). The CTLA-4 +49G/A polymorphism and GTAG haplotype are associated with increased risk of osteosarcoma.
authors: Department of Spine Surgery, Changzheng Hospital, Second Military Medical University, Shanghai, China.
authors: Yang
authors: Y
authors: Liu
authors: Zhimin
authors: Z
authors: He
authors: Dapeng
authors: D
authors: Feng
authors: Guodong
authors: G
authors: Shi
authors: Rui
authors: R
authors: Gao
authors: Xiaodong
authors: X
authors: Wu
authors: Weiguo
authors: W
authors: Song
authors: Wen
authors: W
authors: Yuan