Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. The present study aimed to investigate the association of two common polymorphisms of methylenetetrahydrofolate reductase (MTHFR) g...

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Main Authors: Arezoo Jahanbin, Nadia Hasanzadeh, Faraneh Abdolhoseinpour, Ariane Sadr-Nabavi, Mohammad-Ali Raisolsadat, Khosro Shamsian, Farnaz Mohajertehran, Hamidreza Kianifar
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2014-06-01
Series:Iranian Journal of Public Health
Subjects:
Online Access:https://ijph.tums.ac.ir/index.php/ijph/article/view/4054
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author Arezoo Jahanbin
Nadia Hasanzadeh
Faraneh Abdolhoseinpour
Ariane Sadr-Nabavi
Mohammad-Ali Raisolsadat
Khosro Shamsian
Farnaz Mohajertehran
Hamidreza Kianifar
author_facet Arezoo Jahanbin
Nadia Hasanzadeh
Faraneh Abdolhoseinpour
Ariane Sadr-Nabavi
Mohammad-Ali Raisolsadat
Khosro Shamsian
Farnaz Mohajertehran
Hamidreza Kianifar
author_sort Arezoo Jahanbin
collection DOAJ
description Non-syndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. The present study aimed to investigate the association of two common polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene (c.677C>T and c.1298A>C) with the occurrence of nsCL/P in an Iranian population.Forty-five nsCL/P patients, 43 mothers of patients, and 101 unrelated controls participated in the present study. Analysis of c.677C>T and c.1298A>C polymorphisms in MTHFR gene was conducted using polymerase chain reaction and restriction enzyme digestions.There was no statistical difference in genotype and allele frequencies for c.677C>T variants between patients or their mothers and the control group. However, differences in the frequencies of alleles and genotypes of c.1298A>C polymorphism were statistically significant between patients and control group (P=0.01 for alleles and P=0.005 for genotypes). The odds ratios (OR) for the CC versus AA homozygotes were 6.1 (95% CI 1.8-20.5) and 4.2 (95% CI 1.1-15.4), in patients and mothers, respectively.We found no association between genetic polymorphism of MTHFR c.677C>T and the risk of nsCL/P in the population studied. Yet the results suggested that c.1298A>C polymorphism of MTHFR gene may be a risk factor for the occurrence of nsCL/P in the Iranian population.
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spelling doaj.art-b29b382115b44067b1767acd649cb38e2022-12-21T19:01:21ZengTehran University of Medical SciencesIranian Journal of Public Health2251-60852251-60932014-06-014363909Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.Arezoo Jahanbin0Nadia Hasanzadeh1Faraneh Abdolhoseinpour2Ariane Sadr-Nabavi3Mohammad-Ali Raisolsadat4Khosro Shamsian5Farnaz Mohajertehran6Hamidreza Kianifar71. Dept. of Orthodontics, School of Dentistry, Mashhad University of Medical Sciences , Mashhad, Iran.2. Dental Material Research Center, School of Dentistry, Mashhad University of Medical Sciences , Mashhad, Iran.3. Mashhad University of Medical Sciences , Mashhad, Iran.4. Dept. of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences , Mashhad, Iran.5. Dr. Sheikh Hospital, Mashhad University of Medical Sciences , Mashhad, Iran.6. Jahade Daneshgahi of Mashhad , Mashhad, Iran.7. Dental Research Center, Mashhad University of Medical Sciences , Mashhad, Iran.8. Dept. of Pediatric Gastroenterology, Ghaem Medical Center, Mashhad University of Medical Sciences , Mashhad, Iran.Non-syndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. The present study aimed to investigate the association of two common polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene (c.677C>T and c.1298A>C) with the occurrence of nsCL/P in an Iranian population.Forty-five nsCL/P patients, 43 mothers of patients, and 101 unrelated controls participated in the present study. Analysis of c.677C>T and c.1298A>C polymorphisms in MTHFR gene was conducted using polymerase chain reaction and restriction enzyme digestions.There was no statistical difference in genotype and allele frequencies for c.677C>T variants between patients or their mothers and the control group. However, differences in the frequencies of alleles and genotypes of c.1298A>C polymorphism were statistically significant between patients and control group (P=0.01 for alleles and P=0.005 for genotypes). The odds ratios (OR) for the CC versus AA homozygotes were 6.1 (95% CI 1.8-20.5) and 4.2 (95% CI 1.1-15.4), in patients and mothers, respectively.We found no association between genetic polymorphism of MTHFR c.677C>T and the risk of nsCL/P in the population studied. Yet the results suggested that c.1298A>C polymorphism of MTHFR gene may be a risk factor for the occurrence of nsCL/P in the Iranian population.https://ijph.tums.ac.ir/index.php/ijph/article/view/4054Cleft LipCleft palateFolic acidMTHFRMethylenetetrahydrofolate reductaseNon-syndromic cleft
spellingShingle Arezoo Jahanbin
Nadia Hasanzadeh
Faraneh Abdolhoseinpour
Ariane Sadr-Nabavi
Mohammad-Ali Raisolsadat
Khosro Shamsian
Farnaz Mohajertehran
Hamidreza Kianifar
Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.
Iranian Journal of Public Health
Cleft Lip
Cleft palate
Folic acid
MTHFR
Methylenetetrahydrofolate reductase
Non-syndromic cleft
title Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.
title_full Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.
title_fullStr Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.
title_full_unstemmed Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.
title_short Analysis of MTHFR Gene C.677C>T and C.1298A>C Polymorphisms in Iranian Patients with Non-Syndromic Cleft Lip and Palate.
title_sort analysis of mthfr gene c 677c t and c 1298a c polymorphisms in iranian patients with non syndromic cleft lip and palate
topic Cleft Lip
Cleft palate
Folic acid
MTHFR
Methylenetetrahydrofolate reductase
Non-syndromic cleft
url https://ijph.tums.ac.ir/index.php/ijph/article/view/4054
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