OBJECTIVETo investigate the association between a polymorphism of methylenetetrahydrofolate reductase with Non-syndromic cleft lip with or without cleft palate (NSCL/P) in Chinese population.

METHODSThe polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) technique was used to detect a single nucleotide polymorphism (SNP), rs1801131, at the methylenetetrahydrofolate reductase (MTHFR) gene in both 158 patients with NSCL/P and 192 healthy individuals. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the association analysis.

RESULTSThe genotypic distribution of A1298C was not deviated from the Hardy-Weinberg equilibrium in both controls and patients. No association was found between cleft lip with or without palate (CL/P) and controls. There was significant difference of cleft palate only (CPO) and the healthy individuals (χ(2) = 4.256, P = 0.039). The frequency of AC + CC genotype was higher in control group than that in CPO group (OR = 0.8, 95%CI = 0.381 - 1.683), 26 among 100 healthy individuals carried AC + CC genetypes, which were carried by 22% of CPO patients.

CONCLUSIONSThe polymorphism of MTHFR A1298C may be involved in the occurrence of non-syndromic cleft palate only in Chinese population.