Association of MTHFR 677C>T, 1298A>C and MTR 2756A>G Polymorphisms with Risk of Retinoblastoma.

Background: The MTHFR 677C>T, 1298A>C and MTR 2756A>G polymorphisms have been investigated in several different cancer types. However, the role of these polymorphisms in the development of retinoblastoma remains unclear. Here, we have evaluated the association of the MTHFR 677C>T, 1298A>C and MTR 2756A>G polymorphisms with the risk of retinoblastoma in Iranian children.

Methods: The MTHFR 677C>T, 1298A>C and MTR 2756A>G polymorphisms in 66 patients with retinoblastoma and 99 age-and gender-matched healthy controls were detected on the ABI PRISMs 7500 Real-Time PCR System. The association between these polymorphisms and the risk of retinoblastoma was analysed by an odds ratio with a 95% confidence interval.

Results: Our results showed a significant association between the MTR 2756A>G polymorphism and the risk of retinoblastoma. In the MTR 2756A>G polymorphism, the AG (39.4%) and GG (9.1%) genotype frequencies in the cases were found to be higher in comparison with the controls, showing a significant difference (p < 0.05). However, no significant difference was observed in the allelic or genotypic frequencies for both the MTHFR 677C>T and 1298A>C polymorphisms in the retinoblastoma patients of the controls (p > 0.05).

Conclusions: Our results suggested that the MTR 2756A>G polymorphism might be associated with an increased risk of retinoblastoma in Iranian children. However, the results show that the MTHFR 677C>T and 1298A>C polymorphisms are not significantly associated with an increased risk of retinoblastoma.