Family-Based Association Study of the MTHFR Polymorphism C677T in Patients with Nonsyndromic Cleft Lip and Palate from Central Europe

Abstract

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 CL/P 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 CL/P 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 CL/P among central Europeans.

Keywords

cleft lip and palate genotyping methylenetetrahydrofolate reductase MTHFR gene nonsyndromic TDT

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