Abstract

Abstract Background: Recently, epidemiological studies investigating the association of MTHFR 677 C > T, 1298 A > C and MTR 2756 A > G polymorphism with retinoblastoma susceptibility reported controversial results. Methods: Data were collected from several electronic databases such as PubMed, EMBASE, and Google Scholar databases, with the last search up to December 05, 2019. Results: A total of eleven case-control studies including four studies with 324 cases and 490 controls on MTHFR 677 C > T, four studies with 324 cases and 490 controls on MTHFR 1298 A > C, and three studies with 283 cases and 485 controls on MTR 2756 A > G were selected. There was a significant association between MTHFR 677 C > T and MTR 2756 A > G polymorphisms and an increased risk of retinoblastoma. However, MTHFR 1298 A > C polymorphism was not significantly associated with risk of retinoblastoma. Conclusion: This meta-analysis demonstrated that MTHFR 677 C > T and MTR 2756 A > G polymorphisms might play important roles in the development of retinoblastoma. No association with MTHFR 1298 A > C polymorphism was observed. Keywords: Retinoblastoma, childhood, MTHFR, methylation, methionine synthase