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Correlation of methylenetetrahydrofolate reductase polymorphisms with homocysteine metabolism in healthy Lebanese adults

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dc.contributor.author Mahfouz R.A.
dc.contributor.author Cortas N.K.
dc.contributor.author Charafeddine K.M.
dc.contributor.author Abdul Khalik R.N.
dc.contributor.author Sarieddine D.S.
dc.contributor.author Kadi R.H.
dc.contributor.author Daher R.T.
dc.contributor.editor
dc.date Aug-2012
dc.date.accessioned 2017-10-05T15:59:34Z
dc.date.available 2017-10-05T15:59:34Z
dc.date.issued 2012
dc.identifier 10.1016/j.gene.2012.05.029
dc.identifier.isbn
dc.identifier.issn 03781119
dc.identifier.uri http://hdl.handle.net/10938/19084
dc.description.abstract Hyperhomocysteinemia is associated with several vascular and teratogenic conditions. Determinants of total homocysteine concentrations include genetic and nutritional factors. This study assesses the relation between homocysteine concentrations and MTHFR gene polymorphisms at two common alleles (C677T (rs1801133) and A1298C (rs1801131)) as well as other predictors of homocysteine (folate, vitamin B 12, body mass index (BMI), age, and gender) in a group of healthy Lebanese: 109 males and 124 females aged 17-55years. We used serum for the determination of homocysteine, folate and vitamin B 12 levels and blood drawn in EDTA tubes for molecular analysis of MTHFR polymorphisms. Hyperhomocysteinemia was present in 59-233 (25.3percent) of the subjects, with male-female ratio of 1.95. Multivariable regression analysis showed that homocysteine levels were negatively related to folate and vitamin B 12 and positively related to male gender and C677T homozygosity; but not A1298C polymorphism, BMI or age. The prevalence of wild, heterozygous, and homozygous C677T genotypes was 45.0percent, 43.3percent and 11.6percent, respectively; with a carrier frequency of 54.9percent and allelic frequency of 33.3percent. The A1298C genotypic prevalence was 39.5percent, 30.9percent, and 29.6percent respectively; with a carrier frequency of 60.5percent and allelic frequency of 45.1percent. C677T-A1289C compound heterozygosity was present in 47-233 (20.2percent) of volunteers. In this first pilot study, gender, folate, vitamin B 12 and C677T mutational status could explain around 32percent of homocysteine variations. Future larger studies are recommended to investigate other predictors of homocysteine variation and combine them with markers explored in this and other studies, in order to evaluate their impact on vascular and-or congenital diseases. © 2012 Elsevier B.V.
dc.format.extent
dc.format.extent Pages: (175-180)
dc.language English
dc.publisher AMSTERDAM
dc.relation.ispartof Publication Name: Gene; Publication Year: 2012; Volume: 504; no. 2; Pages: (175-180);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title Correlation of methylenetetrahydrofolate reductase polymorphisms with homocysteine metabolism in healthy Lebanese adults
dc.type Article
dc.contributor.affiliation Mahfouz, R.A., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Cortas, N.K., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Charafeddine, K.M., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Abdul Khalik, R.N., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Sarieddine, D.S., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Kadi, R.H., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Daher, R.T., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.authorAddress Daher, R.T.; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box: 11-0236, Beirut 1107-2020, Lebanon; email: rd02@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 rd02@aub.edu.lb
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Mahfouz, RA
dc.contributor.authorInitials Cortas, NK
dc.contributor.authorInitials Charafeddine, KM
dc.contributor.authorInitials Khalik, RNA
dc.contributor.authorInitials Sarieddine, DS
dc.contributor.authorInitials Kadi, RH
dc.contributor.authorInitials Daher, RT
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Daher, RT (reprint author), Amer Univ Beirut, Med Ctr, Dept Pathol and Lab Med, POB 11-0236, Beirut 11072020, Lebanon.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 2
dc.description.citedTotWOSCount 3
dc.description.citedWOSCount 3
dc.format.extentCount 6
dc.identifier.articleNo
dc.identifier.coden GENED
dc.identifier.pubmedID 22652272
dc.identifier.scopusID 84862770191
dc.identifier.url
dc.publisher.address PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS
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dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr Gene
dc.relation.ispartOfIssue 2
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Gene
dc.relation.ispartofPubTitleAbbr Gene
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 504
dc.source.ID WOS:000306775100005
dc.type.publication Journal
dc.subject.otherAuthKeyword A1298C
dc.subject.otherAuthKeyword C677T
dc.subject.otherAuthKeyword Folate
dc.subject.otherAuthKeyword Homocysteine
dc.subject.otherAuthKeyword Vitamin B 12
dc.subject.otherChemCAS 5,10 methylenetetrahydrofolate reductase (FADH2), 9028-69-7
dc.subject.otherChemCAS cyanocobalamin, 53570-76-6, 68-19-9, 8064-09-3
dc.subject.otherChemCAS folic acid, 59-30-3, 6484-89-5
dc.subject.otherChemCAS homocysteine, 454-28-4, 6027-13-0
dc.subject.otherChemCAS DNA Primers
dc.subject.otherChemCAS Homocysteine, 454-28-4
dc.subject.otherChemCAS Methylenetetrahydrofolate Reductase (NADPH2), 1.5.1.20
dc.subject.otherIndex 5,10 methylenetetrahydrofolate reductase (FADH2)
dc.subject.otherIndex cyanocobalamin
dc.subject.otherIndex folic acid
dc.subject.otherIndex homocysteine
dc.subject.otherIndex adolescent
dc.subject.otherIndex adult
dc.subject.otherIndex age
dc.subject.otherIndex allele
dc.subject.otherIndex amino acid metabolism
dc.subject.otherIndex article
dc.subject.otherIndex blood sampling
dc.subject.otherIndex body mass
dc.subject.otherIndex controlled study
dc.subject.otherIndex DNA polymorphism
dc.subject.otherIndex female
dc.subject.otherIndex gender
dc.subject.otherIndex gene frequency
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genotype
dc.subject.otherIndex heterozygote
dc.subject.otherIndex homozygosity
dc.subject.otherIndex human
dc.subject.otherIndex human experiment
dc.subject.otherIndex male
dc.subject.otherIndex normal human
dc.subject.otherIndex priority journal
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Adult
dc.subject.otherIndex Base Sequence
dc.subject.otherIndex DNA Primers
dc.subject.otherIndex Female
dc.subject.otherIndex Homocysteine
dc.subject.otherIndex Humans
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Male
dc.subject.otherIndex Methylenetetrahydrofolate Reductase (NADPH2)
dc.subject.otherIndex Middle Aged
dc.subject.otherIndex Polymerase Chain Reaction
dc.subject.otherIndex Young Adult
dc.subject.otherKeywordPlus CORONARY-ARTERY-DISEASE
dc.subject.otherKeywordPlus NEURAL-TUBE DEFECTS
dc.subject.otherKeywordPlus TURKISH POPULATION-SAMPLE
dc.subject.otherKeywordPlus SERUM TOTAL HOMOCYSTEINE
dc.subject.otherKeywordPlus PLASMA HOMOCYSTEINE
dc.subject.otherKeywordPlus MTHFR GENE
dc.subject.otherKeywordPlus COMMON MUTATION
dc.subject.otherKeywordPlus HIGH PREVALENCE
dc.subject.otherKeywordPlus RISK-FACTOR
dc.subject.otherKeywordPlus CARDIOVASCULAR-DISEASE
dc.subject.otherWOS Genetics and Heredity


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