A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma
2011

Genetic Variations Linked to Osteosarcoma

Sample size: 1522 publication Evidence: moderate

Author Information

Author(s): Lisa Mirabello, Kai Yu, Sonja I. Berndt, Laurel Burdett, Zhaoming Wang, Salma Chowdhury, Kedest Teshome, Arinze Uzoka, Amy Hutchinson, Tom Grotmol, Chester Douglass, Richard B. Hayes, Robert N. Hoover, Sharon A. Savage

Primary Institution: National Cancer Institute, National Institutes of Health

Hypothesis

Genetic variations in genes related to growth, bone formation, DNA repair, and ribosomal function may influence the risk of osteosarcoma.

Conclusion

The study found several genetic variants associated with osteosarcoma, particularly in the FANCM and GH1 genes.

Supporting Evidence

  • Twelve SNPs in growth or DNA repair genes were significantly associated with osteosarcoma after Bonferroni correction.
  • Four SNPs in the DNA repair gene FANCM showed a 2-fold increased risk of osteosarcoma.
  • Two SNPs downstream of the growth hormone gene GH1 were significantly associated with osteosarcoma.

Takeaway

This study looked at genes that might affect the risk of a bone cancer called osteosarcoma and found some important genetic changes that could be linked to the disease.

Methodology

The study evaluated 4836 tag-SNPs across 255 candidate genes in 96 osteosarcoma cases and 1426 controls using logistic regression models.

Limitations

The study had a small number of cases and used older controls, which may affect the results.

Participant Demographics

All participants were self-identified Caucasians from the continental United States.

Statistical Information

P-Value

0.0009

Confidence Interval

95% CI 1.01-1.79

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2407-11-209

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