Study of C677T Methylene Tetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Neural Tube Defects

Various genetic and environmental factors contribute to the development of neural tube defects (NTDs) which are a group of neurulation defects resulting from failure of closure of embryonic neural tube. Among genetic factors is polymorphism in methylene tetrahydrofolate reductase (MTHFR) gene, giving rise to a gene variant or mutant. However, in most studies directed at finding an association between MTHFR variants and NTD, there is no clear evidence of a cause-and-effect relationship.

Forty diagnosed cases of NTDs and forty healthy individuals were investigated in a case-control study for presence of C677T MTHFR gene polymorphism. Serum folate and Vitamin B12 levels were estimated and MTHFR gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism.

It was found that 32 cases were homozygous with CC genotype and eight were heterozygous with CT genotype, whereas 35 controls had CC genotype and five had CT genotype. TT genotype was absent in both the groups. There was no statistically significant difference between both the groups. No evidence of association between MTHFR C677T polymorphism and NTDs was found.

Although there was no evidence of association between MTHFR C677T polymorphism and NTDs, our study does not rule out the impact of MTHFR gene mutation on folate metabolism. The reason for absence of TT genotype and no association could be a small sample size. Larger, comprehensive, and well-designed multicentric but feasible studies involving proper subjects and appropriate and adequate controls from several hospitals may provide more meaningful data.