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

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

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...

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Bibliographic Details
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
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Summary: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.
ISSN:2228-5660
2228-5652
2228-5660
DOI:10.15171/bi.2017.31