Objective To investigate the association between genetic polymorphism of methylenetetrahydrofolate dehydrogenase（MTHFD）1 and mehionine synthas（MTR） and non-syndromic cleft lip with or without cleft palate （NSCL/P）. Methods Collected the mucosa of the experimental group consisted of 187 NSCL/P patients and control group consisted of 157 normal mucosa. DNA was extracted and identified the genotypes of the samples: MTHFD1（rs2236225） and MTR（rs1805087）. Compared with two groups of genotype and allele frequency, analysis of genotype distribution frequency and relationship between two genes’ interaction with NSCL/P. Results There was no statistical difference in genotype and gene frequencies between case group and control group of MTR and MTHFD1 （P>0.05）. The odds ratio of genotype AG, GG of MTR were 0.308, 0.501. The odds ratio of genotype GA, AA of MTHFD1 were 0.812, 0.196. According to AA-GG, the odds ratio of genotype between AG-AA, GG-GA and GGAA were 2.078, 4.508 and 6.497. Conclusion None association between genetic polymorphism of MTHFD1, MTR and NSCL/P, but the interaction of MTHFD1 and MTR is the risk factor of the NSCL/P.
