Osteosarcoma (OS) is the most common pediatric and adult bone malignancy worldwide. Genetic polymorphisms may play critical roles in the development of OS. However, there present inconclusive results. The current study was to investigate the role of genetic polymorphisms in OS risk. Electronic databases were searched for relevant studies published between 2000 and 2014. The odds ratio (OR) with its 95% confidence interval (CI) were employed to estimate the associations. Total 7 studies containing 911 OS patients and 1145 matched controls were included. Our results found that CTLA-4 +49A/G G allele and TGF-β1 29T/C C allele were more frequent in OS patients than that in controls, indicating that these two alleles were significantly associated with increased the risk of OS (G vs. A: OR = 1.36, 95% CI = 1.13-1.64, P = 0.001; C vs. T: OR = 1.49, 95% CI = 1.17-1.90, P = 0.001) in a fixed-effect model. This significant relationship was also found under other three genetic models in both variants (P<0.05). While no association was found between TNF-α -308G/A or TNF-β +252A/G polymorphism and OS risk. In conclusion, our results demonstrated that CTLA-4 +49A/G and TGF-β1 29T/C variants were significantly associated with OS susceptibility. Although number of included studies is small, several polymorphisms appearing to significantly influence the OS risk should be focused. Moreover, further studies with gene-gene and gene-environmental interactions should be considered.
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