Association study of the common polymorphisms in the folate-methionine pathway with retinoblastoma.

BACKGROUND

Folate and methionine metabolism enzymes could affect DNA synthesis and repair, and their methylation and polymorphisms have been associated with some forms of cancer. This study was carried out to investigate whether the MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131) and TYMS 2R/3R (rs34743033) polymorphisms are associated with susceptibility to retinoblastoma in an Iranian population.

METHODS

A case-control study was conducted involving 96 patients with retinoblastoma and 204 healthy controls. Genotyping of the MTHFR C677T, MTHFR A1298C, and TYMS 2R/3R polymorphism were assessed by PCR-RFLP, high resolution melting curve (HRM), and PCR methods, respectively.

RESULTS

The frequencies of MTHFR 677CT and 677TT genotypes were significantly lower in cases than controls (p values, 0.012 and 0.034, respectively). The MTHFR 677T allele was significantly lower in patients than in the control group (p = 0.003). In contrast, no association was observed with respect to the MTHFR A1298C and TYMS 2R/3R polymorphisms.

CONCLUSIONS

The MTHFR C677T polymorphism was associated with the risk of retinoblastoma in this Iranian population and the T allele had a protective effect on the susceptibility to retinoblastoma.