Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from Central Europe

Objective: The 677C -> T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism. Patients/Participants: We examined 181 patients with CUP of central European descent and their parents for this variant. Results: The transmission disequilibrium test (TDT) did not confirm an association between the MTHFR 677C -> T polymorphism and nonsyndromic CUP as previously suggested (p = .36). When comparing the offspring of mothers with periconceptional use of folate to those without, no statistically significant differences were found (p = .708). Conclusion: Our data suggest that the MTHFR 677C -> T polymorphism does not make a major contribution to the occurrence of CUP among central Europeans.