Osteosarcoma (OS) is a rare malignant bone tumor with an overall incidence rate of 4.6 cases per million children aged 0-19 years in the United States. While the etiology of OS is largely unknown, its distinctive age-incidence pattern suggests that growth and development is crucial in genesis. Prior studies have suggested that variants in genes in the estrogen metabolism (ESTR) and insulin-like growth factor/growth hormone (IGF/GH) pathways are associated with OS. We examined 798 single nucleotide polymorphisms (SNPs) in 42 genes from these pathways in a case-parent study (229 complete triads and 56 dyads) using buccal cell samples. Relative risks (RR) and 95% confidence intervals (CI) associated with transmitting one or two copies of the variant were estimated using log-linear models. After Bonferroni correction, 1 SNP within the ESTR pathway (rs1415270: RR = 0.50 and 8.37 for 1 and 2 vs. 0 copies, respectively; p = 0.010), and two SNPs in the IGF/GH pathway (rs1003737: RR = 0.91 and 0.0001 for 1 and 2 vs. 0 copies, respectively; p
|Original language||English (US)|
|State||Published - 2012|
- Case-parent study
- Estrogen metabolism pathway
- Growth and development
- Insulin-like growth factor pathway
Musselman, J. R. B., Bergemann, T. L., Ross, J. A., Sklar, C., Silverstein, K. A. T., Langer, E. K., Savage, S. A., Nagarajan, R., Krailo, M., Malkin, D., & Spector, L. G. (2012). Case-parent analysis of variation in pubertal hormone genes and pediatric osteosarcoma: A children's oncology group (COG) study.