The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: Evidence for a protective role

Rafighdoost, F. and Rafighdoost, A. and Rafighdoost, H. and Rigi-Ladez, M. A. and Hashemi, M. and Eskandari-Nasab, E. (2015) The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: Evidence for a protective role. Journal of Applied Oral Science, 23 (3). pp. 272-278.

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Abstract

Objective: Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as well as folate metabolizing enzymes in risk reduction of orofacial clefts. Dihydrofolate reductase (DHFR) enzyme participates in the metabolic cycle of folate and has a crucial role in DNA synthesis, a fundamental feature of gestation and development. A functional polymorphic 19-bp deletion within intron-1 of DHFR has been associated with the risk of common congenital malformations. The present study aimed to evaluate the possible association between DHFR 19-bp deletion polymorphism and susceptibility to NS-CL/P in an Iranian population. Material and Methods: The current study recruited 100 NS-CL/P patients and 100 healthy controls. DHFR 19-bp deletion was determined using an allele specific-PCR method. Results: We observed the DHFR 19-bp homozygous deletion genotype (D/D) vs. homozygous wild genotype (WW) was more frequent in controls than in NS-CL/P patients (25 vs. 13), being associated with a reduced risk of NS-CL/P in both codominant (OR=0.33, P=0.027) and recessive (OR=0.45, P=0.046) tested inheritance models. We also stratified the cleft patients and reanalyzed the data. The association trend for CL+CL/P group compared to the controls revealed that the DD genotype in both codominant (OR=0.30, P=0.032) and recessive models (OR=0.35, P=0.031) was associated with a reduced risk of CL+CL/P. Conclusions: Our results for the first time suggested the DHFR 19-bp D/D genotype may confer a reduced risk of NS-CL/P and might act as a protective factor against NS-CL/P in the Iranian subjects. © 2015, Faculdade de Odontologia de Bauru. All rights reserved.

Item Type: Article
Additional Information: Cited By :4 Export Date: 16 February 2020 Correspondence Address: Eskandari-Nasab, E.; Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical SciencesIran
Uncontrolled Keywords: Dihydrofolate reductase (DHFR) Ins/Del polymorphism3 Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) dihydrofolate reductase adolescent adult brain case control study child cleft lip cleft palate congenital malformation female gene deletion gene frequency genetic association genetic polymorphism genetics human infant male middle aged polymerase chain reaction preschool child reference value risk assessment statistical model young adult Case-Control Studies Child, Preschool Genetic Association Studies Humans Logistic Models Polymorphism, Genetic Reference Values Tetrahydrofolate Dehydrogenase
Subjects: WU Dentistry. Oral surgery
Divisions: Mashhad University of Medical Sciences
Depositing User: mr lib5 lib5
Date Deposited: 25 Apr 2020 07:40
Last Modified: 25 Apr 2020 07:40
URI: http://eprints.mums.ac.ir/id/eprint/16525

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