Abstract
PURPOSE: Osteosarcoma is the most common childhood bone cancer. Interleukin-1 beta (IL-1B) is crucially involved in osteosarcoma carcinogenesis. Whether genetic polymorphisms of IL-1B also influence osteosarcoma risk is unknown. The aim of this study was to investigate the association between IL-1B gene polymorphisms and osteosarcoma risk in Chinese Han patients. METHODS: A hospital-based case-control study involving 120 osteosarcoma patients and 120 controls was conducted. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis was performed to detect three IL-1B gene polymorphisms (-31 T/C, -511 C/T and +3954 C/T) in these patients. RESULTS: Patients with osteosarcoma had a significantly lower frequency of -31 CC genotype [odds ratio (OR) = 0.40, 95% confidence interval (CI) = 0.17-0.92; P = 0.03] and -31 C allele (OR = 0.67, 95% CI = 0.46-0.99; P = 0.04) than controls. Patients with osteosarcoma had a significantly lower frequency of -511 TT genotype (OR = 0.40, 95% CI = 0.17-0.95; P = 0.04) than controls. The +3954 C/T gene polymorphisms were not associated with a risk of osteosarcoma. When stratified by Enneking stage, tumour location, histological type, tumour metastasis of osteosarcoma and family history of cancer, no statistically significant results were found. CONCLUSIONS: This is the first study to provide evidence for an association of IL-1B gene polymorphisms with osteosarcoma risk.