Moreover, the MTHFR C677T, MTHFRA1298C, and MTRR A66G polymorphisms were found to be significantly associated with the risk of certain subtypes of CTD.
The A1298CMethylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.
Methylenetetrahydrofolate reductaseC677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects.
Analyses that investigated a potential gene-nutrient interaction between maternal periconceptional vitamin use and MTHFR genotypes did not indicate that the CT or TT genotype contributed to conotruncal defect risk in infants even in the absence of maternal use of multivitamin supplements with folic acid.