High prevalence of MTHFR gene A1298C polymorphism in Lebanon

Sabbagh A.S.; Mahfoud Z.; Taher A.; Zaatari G.; Daher R.; Mahfouz R.A.R.

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dc.contributor.author	Sabbagh A.S.
dc.contributor.author	Mahfoud Z.
dc.contributor.author	Taher A.
dc.contributor.author	Zaatari G.
dc.contributor.author	Daher R.
dc.contributor.author	Mahfouz R.A.R.
dc.contributor.editor
dc.date	Mar-2008
dc.date.accessioned	2017-10-05T15:59:46Z
dc.date.available	2017-10-05T15:59:46Z
dc.date.issued	2008
dc.identifier	10.1089/gte.2007.0064
dc.identifier.isbn
dc.identifier.issn	10906576
dc.identifier.uri	http://hdl.handle.net/10938/19234
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
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.relation.ispartofseries
dc.relation.uri
dc.source	Scopus
dc.subject.other
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: rm11@aub.edu.lb
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.authorDivision
dc.contributor.authorEmail	rm11@aub.edu.lb
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.authorOrcidID
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.authorResearcherID
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.articleNo
dc.identifier.coden	GETEF
dc.identifier.pubmedID	18373406
dc.identifier.scopusID	41449106682
dc.identifier.url
dc.publisher.address	140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr	Genet. Test.
dc.relation.ispartOfIssue	1
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle	Genetic Testing
dc.relation.ispartofPubTitleAbbr	Genet. Test.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume	12
dc.source.ID	WOS:000255019900010
dc.type.publication	Journal
dc.subject.otherAuthKeyword
dc.subject.otherChemCAS	5,10 methylenetetrahydrofolate reductase (FADH2), 9028-69-7
dc.subject.otherChemCAS	Methylenetetrahydrofolate Reductase (NADPH2), EC 1.5.1.20
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	METHYLENETETRAHYDROFOLATE REDUCTASE GENE
dc.subject.otherKeywordPlus	NEURAL-TUBE DEFECTS
dc.subject.otherKeywordPlus	CORONARY-ARTERY-DISEASE
dc.subject.otherKeywordPlus	SINGLE NUCLEOTIDE POLYMORPHISMS
dc.subject.otherKeywordPlus	DIFFERENT ETHNIC-GROUPS
dc.subject.otherKeywordPlus	FACTOR-V-LEIDEN
dc.subject.otherKeywordPlus	5,10-METHYLENETETRAHYDROFOLATE REDUCTASE
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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