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Background: Clubfoot is a common congenital foot deformity. Low folate status in mothers has been associated with CTEV. Folate metabolism might be affected by Methylene Tetrahydrofolate Reductase (MTHFR) gene polymorphism. The present study was aimed to investigate MTHFR C677T polymorphism and its association with CTEV. Methods: This is a Case-mother-Dyad study with 30 pairs of cases and controls. Single Nucleotide Polymorphism (SNP) analysis of the MTHFR gene was done in this hospital-based study by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results: In this study, we observed less relative risk of CTEV in presence of C allele as compared to T allele in children, with Relative Risk-0.6281 and likelihood ratio of 0.5714. While analysing the correlation of genotype variation in cases (CC ¼ 8(26.66%) and CT ¼ 22(73.33%)) with there biological mother (CC ¼ 13(43.33%) and CT ¼ 17(56.66%)), no significant correlation (p ¼ 0.3110) was found between cases and their biological mother genotype. Conclusion: Among the enrolled cases, there was a significant association of increased CTEV risk with 677T variant allele of MTHFR gene. Also, maternal MTHFR genotype was not found to influence CTEV risk of offspring.

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