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High prevalence of MTHFR gene A1298C polymorphism in Lebanon

Show simple item record Sabbagh A.S. Mahfoud Z. Taher A. Zaatari G. Daher R. Mahfouz R.A.R.
dc.contributor.editor Mar-2008 2017-10-05T15:59:46Z 2017-10-05T15:59:46Z 2008
dc.identifier 10.1089/gte.2007.0064
dc.identifier.issn 10906576
dc.description.abstract Background: Mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene could reduce the enzyme activity and lead to hyperhomocysteinemia, a condition that has been associated with several vascular conditions, in particular, coronary artery disease and deep vein thrombosis. Aim: The aim of this study was to assess the prevalence of the two most common polymorphisms, C677T and A1298C, which have not been well studied in the Lebanese population. Methods: We randomly selected 205 healthy individuals originating from different Lebanese provinces and religious communities. The CVD StripAssay was used to test for MTHFR gene polymorphisms. Results: We found that for C677T, the prevalence of C-C, C-T, and T-T genotypes was 65.3percent, 30.8percent, and 3.9percent, respectively, with an overall carrier rate of 34.6percent and allelic frequency of 0.19. However, the A1298C genotypic prevalence of A-C, A-A, and C-C was 50.2percent, 25.9percent, and 23.9percent, respectively, with an overall carrier rate of 74.14percent and an allelic frequency of 0.49. Conclusions: Compared to all other populations reported so far, the Lebanese population harbors the highest prevalence of the MTHFR A1298C polymorphism. This is an important finding to be followed in terms of clinical significance and sheds light on an additional unique genetic feature in this community. © Copyright 2008, Mary Ann Liebert, Inc.
dc.format.extent Pages: (75-80)
dc.language English
dc.publisher NEW ROCHELLE
dc.relation.ispartof Publication Name: Genetic Testing; Publication Year: 2008; Volume: 12; no. 1; Pages: (75-80);
dc.source Scopus
dc.title High prevalence of MTHFR gene A1298C polymorphism in Lebanon
dc.type Article
dc.contributor.affiliation Sabbagh, A.S., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Mahfoud, Z., Department of Epidemiology and Population Health, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Taher, A., Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Zaatari, G., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Daher, R., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Mahfouz, R.A.R., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon, Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), P.O. Box 11-0236, Riad El Solh 1107 2020, Beirut, Lebanon
dc.contributor.authorAddress Mahfouz, R. A. R.; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), P.O. Box 11-0236, Riad El Solh 1107 2020, Beirut, Lebanon; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Pathology and Laboratory Medicine;
dc.contributor.authorDepartment Pathology and Laboratory Medicine
dc.contributor.faculty Faculty of Medicine
dc.contributor.authorInitials Sabbagh, AS
dc.contributor.authorInitials Mahfoud, Z
dc.contributor.authorInitials Taher, A
dc.contributor.authorInitials Zaatari, G
dc.contributor.authorInitials Daher, R
dc.contributor.authorInitials Mahfouz, RAR
dc.contributor.authorReprintAddress Mahfouz, RAR (reprint author), Amer Univ Beirut, Med Ctr, Dept Pathol and Lab Med, POB 11-0236,Riad El Solh 1107 2020, Beirut, Lebanon.
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 19
dc.description.citedTotWOSCount 19
dc.description.citedWOSCount 16
dc.format.extentCount 6
dc.identifier.coden GETEF
dc.identifier.pubmedID 18373406
dc.identifier.scopusID 41449106682
dc.publisher.address 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
dc.relation.ispartOfISOAbbr Genet. Test.
dc.relation.ispartOfIssue 1
dc.relation.ispartofPubTitle Genetic Testing
dc.relation.ispartofPubTitleAbbr Genet. Test.
dc.relation.ispartOfVolume 12
dc.source.ID WOS:000255019900010
dc.type.publication Journal
dc.subject.otherChemCAS 5,10 methylenetetrahydrofolate reductase (FADH2), 9028-69-7
dc.subject.otherChemCAS Methylenetetrahydrofolate Reductase (NADPH2), EC
dc.subject.otherIndex 5,10 methylenetetrahydrofolate reductase (FADH2)
dc.subject.otherIndex article
dc.subject.otherIndex DNA polymorphism
dc.subject.otherIndex female
dc.subject.otherIndex gene frequency
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genetic analysis
dc.subject.otherIndex genotype
dc.subject.otherIndex heterozygosity
dc.subject.otherIndex human
dc.subject.otherIndex Lebanon
dc.subject.otherIndex male
dc.subject.otherIndex prevalence
dc.subject.otherIndex Alleles
dc.subject.otherIndex Amino Acid Substitution
dc.subject.otherIndex Ethnic Groups
dc.subject.otherIndex Female
dc.subject.otherIndex Gene Frequency
dc.subject.otherIndex Humans
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Male
dc.subject.otherIndex Methylenetetrahydrofolate Reductase (NADPH2)
dc.subject.otherIndex Point Mutation
dc.subject.otherIndex Polymerase Chain Reaction
dc.subject.otherIndex Polymorphism, Single Nucleotide
dc.subject.otherKeywordPlus NEURAL-TUBE DEFECTS
dc.subject.otherKeywordPlus CORONARY-ARTERY-DISEASE
dc.subject.otherKeywordPlus DIFFERENT ETHNIC-GROUPS
dc.subject.otherKeywordPlus FACTOR-V-LEIDEN
dc.subject.otherKeywordPlus C677T MUTATION
dc.subject.otherKeywordPlus RISK-FACTOR
dc.subject.otherKeywordPlus PLASMA HOMOCYSTEINE
dc.subject.otherWOS Genetics and Heredity
dc.subject.otherWOS Medicine, Research and Experimental

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