Behnoosh Soghani
1, Asghar Ebadifar
1,2*, Hamid Reza Khorram Khorshid
3, Koorosh Kamali
4, Roya Hamedi
5, Fatemeh Aghakhani Moghadam
31 Dentofacial Deformities Research Center Research Institute of Dental Sciences, Faculty of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2 Department of Orthodontic, Faculty of Dentistry, Shahid Behehsti University of Medical Sciences, Tehran, Iran
3 Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
4 Department of Public Health, School of Public Health, Zanjan University of Medical Sciences, Zanjan, Iran
5 Dental Carries Prevention Research Center, Qazvin University of Medical Sciences, Qazvin, Iran
Abstract
Introduction: Cleft lip/palate is one of the most common congenital defects and is supposed to have multifactorial etiology, including a complex interaction between genetics and environment. Reduced folate carrier 1 (RFC1) gene takes part in folate transportation within the cells. In this study, the association of A80G polymorphism in the RFC1 gene with the non-syndromic cleft lip/palate (nsCL/P) was investigated in Iranian infants for the first time.
Methods: In this case-control survey, 122 Iranian infants with nsCL/P and 164 healthy infants were investigated for RFC1 polymorphism by PCR and RFLP methods. The results were statistically compared with control group, odds ratios with 95% CI were estimated by univariate and multivariate logistic regression model and a P <0.05 was considered statistically significant.
Results: The RFC1 G allele was significantly higher (P=0.001; OR=7, 95% CI: 4.7-10.2) in the cases (60.3%) compared with the controls (17.9%). Not only the RFC1 AG genotype was significantly higher (P<0.001; OR=44, 95% CI: 14.6-133) in cases (67.8%) than the controls (27.4%), but also GG genotype (P<0.001; OR=85, 95% CI: 20.5-352) was much higher in cases (26.4%) than the controls (4.3%).
Conclusion: Our study indicated that the RFC1 (A80G) polymorphism was associated with the nsCL/P in Iranian population. Moreover, 80GG homozygosity was significant in the cases. The presence of G allele can be considered as a risk factor for the nsCL/P. Infants with the GG and AG genotypes were more prone to cleft lip/palate as compared to the AA ones. This finding emphasizes the role of RFC1 gene and the intracellular levels of folate.