NFKB1-94ins/del ATTG polymorphism increases osteosarcoma risk in a Chinese Han population

Osteosarcoma is one of the most common bone malignancies. The Nuclear factor-kappa B1 (NFKB1) gene plays an important role in the pathogenesis of osteosarcoma. The objective of this study aimed to detect the potential association between NFKB1-94 ins/del ATTG polymorphism and osteosarcoma susceptibility in Chinese Han population. We recruited 220 osteosarcoma patients and 222 cancer-free controls in this case-control study. The NFKB1-94 ins/del ATTG polymorphism by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Patients with ID genotype and II genotype showed higher risk of osteosarcoma than individuals with DD genotype (OR=1.54, 95% CI 1.00-2.44, P=0.05; OR=1.72, 95% CI 1.01-2.93, P=0.04), respectively. Subjects with ID or II genotype also showed increased risk of osteosarcoma (OR=1.60, 95% CI 1.04-2.47, P=0.03). In addition, I allele was significantly associated with osteosarcoma risk (OR=1.31, 95% CI 1.01-1.71, P=0.04). We also found that this polymorphism was significantly associated with advanced osteosarcoma risk (OR=3.43, 95% CI 1.61-7.36, P=0.001) and metastatic osteosarcoma risk (OR=2.33, 95% CI 1.22-5.03, P=0.01). In conclusion, our findings indicate that osteosarcoma is associated with the NFKB1 promoter-94ins/del ATTG polymorphism.