Association between genetic variants in p53 binding sites and risks of osteosarcoma in a Chinese population: a two-stage case-control study

Abstract

Osteosarcoma (OS) is one of the most common bone malignancies in children and adolescents. To date, inaugural mechanism of OS was considered as a complex process and was still not clear. The p53 gene, most important tumor suppressors, was associated with risk of many tumors, including OS. In current study, we evaluated the relationship between genetic variation of the p53 binding site and the OS susceptibility through a two-stage case-control study in Chinese population. We found that rs1295925 (OR = 0.85; 95 CI = 0.76-0.94; P = 0.003) and rs3787547 (OR = 1.27; 95 CI = 1.11-1.45; P = 4.0 × 10) was significantly with OS susceptibility. Compared with those with rs1295925-TT genotype, and the risk of OS was significantly lower in individuals with CT genotype (OR = 0.77; 95 CI = 0.65-0.92) and CC genotype (OR = 0.75; 95 CI = 0.60-0.93). Compared with those with rs3787547-GG genotype, and the risk of OS was significantly higher in individuals with AG genotype (OR = 1.32; 95 CI = 1.10-1.58) and AA genotype (OR = 1.46; 95 CI = 1.11-1.92). To sum up, our results prove that SNP rs1295925 and rs3787547 play an important role in the etiology of OS, suggesting them as the potential genetic modifier for OS development.

Epidemiological Evidence for Associations Between Genetic Variants and Osteosarcoma Susceptibility: A Meta-Analysis

“…For APE1 rs1760944, OS patients with G allele had better survival and less susceptible to metastasis, and lower risk of low differentiation tumor ( 29 ). The brain enriched myelin associated protein 1 ( BCAS1 ) gene resides in a region at 20q13.2 and BCAS1 rs3787547 may be related to the development of OS by altering the binding power of p53, which is one of the most critical tumor suppressors ( 30 ). Our meta-analysis found that BCAS1 rs3787547 increased the susceptibility of OS with strong evidence in Asians (allelic and dominant model).…”