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

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

Research output: Book/ReportCommissioned report

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
Original languageEnglish (US)
Volume3
StatePublished - 2012

Keywords

  • Osteosarcoma
  • Case-parent study
  • Estrogen metabolism pathway
  • Growth and development
  • Insulin-like growth factor pathway

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