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

ABSTRACT

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. 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. 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. 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