COL1A1 polymorphism is associated with risks of osteosarcoma susceptibility and death.

Osteosarcoma is a life-threatening malignancy that often occurs in teenagers. Collagen type I alpha 1 (COL1A1) polymorphism is reportedly associated with the occurrence of several human diseases. However, the relationship between COL1A1 and osteosarcoma occurrence remains unknown, and there is no report about the prevalence of COL1A1 in osteosarcoma. The purpose of this study is to investigate the associations of COL1A1 polymorphism with the susceptibility and survival of osteosarcoma. The relative risk to develop osteosarcomas and the overall survival associated to COL1A1 polymorphism were investigated in a homogeneous group of 189 osteosarcomas patients. Correlations with overall survival and hazard ratios (HR) were also analyzed. CT genotype and C allele of COL1A1 at rs1061970, and CG genotype and G allele of COL1A1 at rs2075559 are associated with decreased susceptibility to osteosarcoma in the Chinese population. CC genotype and C allele of COL1A1 at rs1061970 are associated with nonmetastasis in patients. CC genotype and CT genotype of COL1A1 at rs1061970 are associated with lower risk of death. Metastasis was found to be an independent prognostic factor for survival. This study provides the first evidence for the association between COL1A1 polymorphism and osteosarcoma risk in Chinese and shows that COL1A1 polymorphism at rs1061970 has a prognostic value for overall survival in osteosarcoma patients.