Full Citation

Title: Case-parent analysis of variation in pubertal hormone genes and pediatric osteosarcoma: A children's oncology group (COG) study

Citation Type: Book, Whole

Publication Year: 2012

ISBN:

ISSN: 19481756

DOI:

NSFID:

PMCID:

PMID: 23205180

Abstract: 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 <0.0001 and rs2575352: RR = 2.62 and 0.22 for 1 and 2 vs. 0 copies; p < 0.0001) were significantly associated with OS incidence. These results confirm previous findings that variation in the estrogen metabolism and bone growth pathways influence OS risk and further support a biologically and epidemiologically plausible role in OS development.

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Authors: Musselman, Jessica R B; Bergemann, Tracy L.; Ross, Julie A.; Sklar, Charles; Silverstein, Kevin A.T.; Langer, Erica K.; Savage, Sharon A.; Nagarajan, Rajaram; Krailo, Mark D.; Malkin, David; Spector, Logan G.

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Pages: 286-293

Volume: 3

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