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Bioimpacts. 2017;7(4): 263-268.
doi: 10.15171/bi.2017.31
PMID: 29435434
PMCID: PMC5801538
Scopus ID: 85041003994
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Original Research

The study of association between reduced folate carrier 1 (RFC1) polymorphism and non-syndromic cleft lip/palate in Iranian population

Behnoosh Soghani 1, Asghar Ebadifar 1,2*, Hamid Reza Khorram Khorshid 3, Koorosh Kamali 4, Roya Hamedi 5, Fatemeh Aghakhani Moghadam 3

1 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
*Corresponding Author: Email: a.ebadifar@sbmu.ac.ir

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.
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Submitted: 23 Sep 2017
Revision: 22 Nov 2017
Accepted: 23 Nov 2017
ePublished: 28 Nov 2017
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