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

• Published in: Bioimpacts Vol. 7; no. 4; pp. 263 - 268
• Main Authors: Soghani, Behnoosh, Ebadifar, Asghar, Khorram Khorshid, Hamid Reza, Kamali, Koorosh, Hamedi, Roya, Aghakhani Moghadam, Fatemeh
• Format: Journal Article
• Language: English
• Published: Tabriz Tabriz University of Medical Sciences 01-01-2017
• Subjects: Alleles; Babies; Cleft lip/palate; Congenital defects; Defects; Deoxyribonucleic acid; DNA; Down syndrome; Etiology; Folic acid; Gene polymorphism; Genes; Heart; Homocysteine; Infants; Intracellular levels; Metabolism; Newborn babies; Original Research; polymorphism; Population; rfc1 gene; Risk factors; Spina bifida; Statistical analysis; Studies; Vitamin B
• ISSN: 2228-5660; 2228-5652; 2228-5660
• DOI: 10.15171/bi.2017.31

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.