Brain tumor is a leading cause of death in India. Folate deficiency has been implicated in the etiology of brain tumor through abnormal DNA methylation and polymorphism. The present study was aimed to identify the association of Methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) gene polymorphism with brain tumor in Indian subjects.
Current study includes 288 brain tumor cases (Glioma=108 and Meningioma=76) and 104 healthy control subjects. Genomic DNA isolation was done using Qiagen Puregene Blood Core kit following the manufacturer’s protocol. PCR-RFLP and ARMS-PCR (Amplification Refractory Mutation System) were used to investigate the substitution of MTHFR C677T and A1298C genes respectively.
The major genotype observed for MTHFR C677T was CC genotype in both controls (71.2%) and cases (glioma 73.1%, meningioma 75%) followed by CT genotype (control 25%, glioma 24.1% and meningioma 19.7%) and TT genotype (control 3.8%, glioma 2.8% and meningioma 5.3%). For MTHFR A1298C, AC was the major genotype in both control (50%) and cases (glioma 60.2%, meningioma 48.7%) followed by AA genotype (control 25%, glioma 22.2% and meningioma 36.8%) and CC genotype (control 25%, glioma 17.6% and meningioma 14.5%). In MTHFR A1298C, CC genotype was observed to have reduced risk of having meningioma than AA genotype (OR = 0.62, 95%CI 0.32-0.97, p = 0.03).
Our findings revealed the significant association between polymorphism of MTHFR A1298C genes of folate metabolizing enzymes with glioma/meningioma patients. Further large pool studies are needed to confirm our findings.
Clinical trial identification
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All authors have declared no conflicts of interest.