Association between MTHFR A1298C polymorphism and neural tube defect susceptibility: a metaanalysis

Objective: To determine whether 5,10-methylenetetrahydrofolate reductase A1298C polymorphism is associated with neural tube defect susceptibility.

Study design: Computerized literature searches of the PubMed, Embase, and Medline database were conducted to identify all eligible articles. Study subjects were classified as neural tube defect patients, mothers with neural tube defect offspring and fathers with neural tube defect offspring. The pooled odds ratios with 95% confidence interval (CI) were calculated by fixed-effects model or random-effects model.

Results: Twenty-three case-control studies were finally included. The pooled results showed no significant association between 5,10-methylenetetrahydrofolate reductase A1298C polymorphism and neural tube defect susceptibility in any genetic contrast among the 3 groups, except 1 (AC vs AA in neural tube defect patients: odds ratio, 1.16; 95% CI, 1.10-1.32; P = .03), which, however, turned out to be of no statistical significance in the subgroup of the white population (odds ratio, 1.14; 95% CI, 0.98-1.31; P = .08).

Conclusion: This metaanalysis suggests that 5,10-methylenetetrahydrofolate reductase A1298C polymorphism is not associated with neural tube defect susceptibility in the white population.