Unknown

Dataset Information

0

Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.


ABSTRACT: 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.

SUBMITTER: Jahanbin A 

PROVIDER: S-EPMC4475601 | BioStudies | 2014-01-01

REPOSITORIES: biostudies

Similar Datasets

1000-01-01 | S-EPMC4484817 | BioStudies
2011-01-01 | S-EPMC3212962 | BioStudies
2019-01-01 | S-EPMC6630484 | BioStudies
2018-01-01 | S-EPMC6021155 | BioStudies
2019-01-01 | S-EPMC6503069 | BioStudies
2014-01-01 | S-EPMC3962346 | BioStudies
2017-01-01 | S-EPMC5512027 | BioStudies
2007-01-01 | S-EPMC1899423 | BioStudies
2020-01-01 | S-EPMC7698989 | BioStudies
2015-01-01 | S-EPMC4355933 | BioStudies