Analysis of MTHFR Gene C.677C>T and C.1298A>C polymor-phisms in Iranian patients with non-syndromic cleft lip and palate

Background: non-syndromic cleft lip with or without cleft palate (nscl/p) is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. the present study aimed to investigate the association of two common polymorphisms of methylenetetrahydrofolate reductase (mthfr) gene (c.677c>t and c.1298a>c) with the occurrence of nscl/p in an iranian population. methods: forty-five nscl/p patients,43 mothers of patients,and 101 unrelated controls participated in the present study. analysis of c.677c>t and c.1298a>c polymorphisms in mthfr gene was conducted using polymerase chain reaction and restriction enzyme digestions. results: there was no statistical difference in genotype and allele frequencies for c.677c>t variants between patients or their mothers and the control group. however,differences in the frequencies of alleles and genotypes of c.1298a>c polymorphism were statistically significant between patients and control group (p=0.01 for alleles and p=0.005 for genotypes). the odds ratios (or) for the cc versus aa homozygotes were 6.1 (95% ci 1.8-20.5) and 4.2 (95% ci 1.1-15.4),in patients and mothers,respectively. conclusions: we found no association between genetic polymorphism of mthfr c.677c>t and the risk of nscl/p in the population studied. yet the results suggested that c.1298a>c polymorphism of mthfr gene may be a risk factor for the occurrence of nscl/p in the iranian population.