rs1760944 Polymorphism in the APE1 Region is Associated with Risk and Prognosis of Osteosarcoma in the Chinese Han Population.

The effects of single nucleotide polymorphisms (SNPs) at APE1 have been investigated in several types of cancer. However, no reports of the association of APE1 polymorphisms with osteosarcoma (OS) have been published. The present study was designed to determine whether APE1 polymorphisms (rs1130409, rs1760944, rs1760941, rs2275008, rs17111750) are associated with OS. A 2-stage case-control study was performed in a total of 378 OS patients and 616 normal controls. Individuals carrying TG and GG genotypes had significantly lower risk of developing OS than those with the WT genotype TT at rs1760944 (OR = 0.65, 95%CI 0.49-0.86; OR = 0.50, 95%CI 0.34-0.74, respectively). OS patients with allele G at rs1760944 were less susceptible to low differentiation tumor and metastasis (OR = 0.73, 95%CI 0.54-0.98; OR = 0.63, 95%CI 0.43-0.92, respectively). Kaplan-Meier curves and log-rank results revealed that OS patients harboring genotype GG and G allele at rs1760944 had better survival (P < 0.001 for both). In addition, the APE1 protein was underexpressed in individuals who carried G allele at rs1760944. This study suggested that APE1 rs1760944 polymorphism is associated with decreased risk of developing OS and better survival of OS patients.