Background: The effectiveness of folic acid supplementation in the periconceptional period for the prevention of cleft lip/cleft lip and palate (CLP) is contradictorily discussed. Genetically determined variants of enzymes of the folic acid metabolism could be part of the key to success or failure of folate supplementation. A mutation of the methylenetetrahydrofolate reductase (MTHFR) gene is suspected to be a risk factor for CLP.
Methods: The blood samples of 66 CLP patients, their 88 relatives (without CLP), and 184 healthy controls were searched by polymerase chain reaction for mutations of MTHFR 677 C:T, MTHFR 1298 A:C and of the arylamine N-acetyltransferase (NAT1) gene [gene type NAT1 degree 4 (wild type) or not].
Results: There was no significant difference in the number of MTHFR gene mutations (for 677 C:T and 1298 A:C) between the three groups (p approximately 0.3), but for the NAT1 genes (p = 0.033). The homozygote mutation was found more than twice as often in CLP patients (10.5%) and their relatives (10.6%) than in the healthy controls (4.35%).
Discussion: Our results provide no evidence that the above MTHFR gene mutations are a risk factor for CLP.A NAT1 gene mutation instead could be a risk factor for CLP.