INTRODUCTION: Folate metabolic pathway plays a significant role in leukemogenesis because of its necessity for nucleotide synthesis and DNA methylation. Folate deficiency causes DNA damage. Thus polymorphisms of folate-related genes may affect the susceptibility to childhood Acute Lymphoblastic Leukemia (ALL). MTHFR (Methylenetetrahydrofolate Reductase), DHFR (Dihydrofolate reductase), CBS (Cystathionine β-synthase), TYMS (Thymidylate Synthase) and RFC have an important role in folate pathway because of their activated variants modulate synthesis of DNA and levels of folate. In this study, we aimed to investigate whether polymorphisms in genes related to folate metabolic pathway influence the risk to childhood ALL.
METHODS: The patient groups who were diagnosed with 103 childhood ALL at Losante Children and adult Hospital were included to the study. RFC G80A and MTHFR genotyping was performed by RFLP (Restriction Fragment Length Polymorphism) analysis and Real Time-PCR.
RESULTS: No statistical difference was observed among the patient and control group according to results of genotype and allele frequencies. The association of RFC G80A and MTHFR polymorphisms was not statistically significantly.
DISCUSSION AND CONCLUSION: Our study displays also importance because of the first screening results to identify association with the RFC and MTHFR polymorphisms in Turkish patients with childhood ALL and determination of the frequency in Turkish population.