Abstract:

BACKGROUND: Results of correlation between 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T loci gene polymorphism and cleft are differ from China and aboard, and the influence of combined intervention factors folic acid has not reported.
OBJECTIVE: To investigate the correlation between MTHFR C677T loci gene polymorphism, folic acid supplementation and non-syndrome cleft lip and palate (NSCL/P) of Han population in Henan Province.
METHODS: Totally 110 cases with NSCL/P visited Department of Plastic Surgery, First Affiliated Hospital of Zhengzhou University or Department of Plastic Surgery, Zhengzhou First People’s Hospital from September 2008 to March 2010 were selected. MTHFR C677T loci genes were detected by PCR-RFLP method, the frequency differences were compared with 40 healthy controls. Simultaneously, the statistical analysis was performed combined with whether folic acid was supplemented at female pregnancy.
RESULTS AND CONCLUSION: There were significance between the case group and control group in C677T genotype and gene frequency (P < 0.01); in addition, TT genotype and gene frequency of cases with a family history was greater than that without a family history (P < 0.05); comparing those with or without folic acid supplementation during pregnancy, there was a negative correlation between NSCL/P and folic acid supplementation (χ²=4.304, γ=-0.169, P  < 0.05). The results suggest that MTHFR C677T mutation is associated with NSCL/P incidence in Henan Han population, and female pregnancy folic acid supplements can reduce the risk of NSCL/P.