Association between 5,10-Methylenetetrahydrofolate Reductase C677T Polymorphisms and conotruncal heart defects in Chinese children

Abstract:

OBJECTIVE: To explore the role of 5,10-methylenetetrahydrofolate reductase (MTHER) C677T polymorphisms in Chinese children with conotruncal heart defects (CTD). METHODS: A total of 97 children with CTD and 118 healthy controls were recruited into the study. MTHER genetic C677T polymorphisms were determined by PCR-RFLP. The 677TT genotype was compared between the two groups. RESULTS: The frequency of the TT genotype and T allele in CTD patients was 24.7% and 52.6%, respectively, which was significantly higher than that of controls ( 13.6% and 42.8%) (P = 0.036, P = 0.043, respectively). In patients with tetralogy of Fallot, coarctation of aorta or interruption of aortic arch, the frequency of the TT genotype varied between 29.7% and 40.0%. CONCLUSIONS: MTHFR gene is associated with CTD, and 677TT genotype might be a risk factor for congenital heart malformations.