MTHFR C677T Polymorphism and risk of nonsyndromic cleft in craniofacial region in a South Indian Population

Abstract

Introduction: Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism was found associated with cleft palate (CP) and cleft lip with or without CP in different populations and only very few studies were conducted in the Indian population. The aim of this case–control study is to detect whether there is any association of C677T MTHFR gene polymorphism with clefts in the craniofacial region, especially with Nonsyndromic cleft lip with cleft palate (NSCLP) in the South Indian population. Material and Methods: The study was conducted on 179 nonsyndromic cleft cases and 130 healthy individuals without cleft were included as controls. To detect the polymorphism, polymerase chain reaction–restriction fragment length polymorphism method was carried out, and the result was analyzed using Chi-square test and binary logistic regression model. Results: Among the cleft cases, 120 were NSCLP and it showed 6.67% CT genotype and 18.33% TT genotype, while in controls, it was 18.46% and 1.54%, respectively. The TT genotype increased the risk of NSCLP (odds ratio [OR] =0.079, 95% confidence interval [CI]: 0.02–0.34, P = 0.0007) and CT genotype decreased the risk (OR = 2.59, 95% CI: 1.11–6.06, P = 0.028). However, CT + TT model had no association with NSCLP when compared to CC genotype. No significant difference was found between other 59 clefts and polymorphism. Discussion and Conclusion: The association of MTHFR C677T polymorphism with NSCLP varies from population to population. Our study found an association between the polymorphism and NSCLP. The TT genotype increased the risk of NSCLP and CT genotype reduced the risk.