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Prevalence of factor V R2 (H1299R) polymorphism in the Lebanese population

Show simple item record Zaatari G.S. Otrock Z.K. Sabbagh A.S. Mahfouz R.A.R.
dc.contributor.editor Oct-2006 2017-10-05T15:59:43Z 2017-10-05T15:59:43Z 2006
dc.identifier 10.1080/00313020600922934
dc.identifier.issn 00313025
dc.description.abstract Aims: A recently identified polymorphism in factor V gene (His1299Arg; also named HR2) has been reported to be a possible risk factor for the development of venous thromboembolism (VTE), with a high prevalence of 9.5-15.2percent in patients of different ethnic groups in different parts of the world. The aim of this study is to assess the prevalence of HR2 haplotype in Lebanon. Methods: We randomly selected 125 samples from unrelated donors logged into our HLA registry; these represent healthy Lebanese individuals originating from different provinces and religious communities of the country. Their DNA was extracted using the Pel-Freez extraction kit and stored at -80°C for later use. The CVD StripAssay was used for PCR and reverse hybridisation. It screens for several gene mutations including factor V H1299R. Results: A total of 125 controls were studied: 72 males and 53 females with a median age 42 years. Thirteen (10.4percent) had the HR2 haplotype; 11 (8.8percent) were heterozygous (R1-R2), and two (1.6percent) were homozygous (R2-R2), with an allelic frequency of 0.06. Conclusions: Our study is the first report from Lebanon that describes the prevalence of HR2 haplotype and the frequency of its alleles. We are reporting a high prevalence of the HR2 in our population (10.4percent). The hypothesis that A4070G polymorphism might contribute to the expression of a thrombotic phenotype deserves to be tested in our population through larger studies. © 2006 Royal College of Pathologists of Australasia.
dc.format.extent Pages: (442-444)
dc.language English
dc.publisher ABINGDON
dc.relation.ispartof Publication Name: Pathology; Publication Year: 2006; Volume: 38; no. 5; Pages: (442-444);
dc.source Scopus
dc.title Prevalence of factor V R2 (H1299R) polymorphism in the Lebanese population
dc.type Article
dc.contributor.affiliation Zaatari, G.S., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Otrock, Z.K., Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Sabbagh, A.S., 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, 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, 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.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Zaatari, GS
dc.contributor.authorInitials Otrock, ZK
dc.contributor.authorInitials Sabbagh, AS
dc.contributor.authorInitials Mahfouz, RAR
dc.contributor.authorReprintAddress Mahfouz, RAR (reprint author), Amer Univ Beirut, Dept Pathol and Lab Med, Ctr Med, Riad El Solh 1107 2020,POB 11-0236, Beirut, Lebanon.
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited Akar N, 2000, HAEMOSTASIS, V30, P118; Alhenc-Gelas M, 1999, THROMB HAEMOSTASIS, V81, P193; Benson JM, 2001, THROMB HAEMOSTASIS, V86, P1188; Bernardi F, 1997, BLOOD, V90, P1552; BERTINA RM, 1995, THROMB HAEMOSTASIS, V74, P449; BERTINA RM, 1994, NATURE, V369, P64, DOI 10.1038-369064a0; Castaman G, 1997, BRIT J HAEMATOL, V99, P257, DOI 10.1046-j.1365-2141.1997.3993213.x; Castoldi E, 2000, THROMB HAEMOSTASIS, V83, P362; DeStefano V, 1996, BLOOD, V87, P3531; de Visser MCH, 2000, THROMB HAEMOSTASIS, V83, P577; Doggen CJM, 2000, THROMB HAEMOSTASIS, V84, P815; Faioni EM, 1999, BLOOD, V94, P3062; Faioni EM, 2004, HAEMATOLOGICA, V89, P195; Herrmann FH, 2001, THROMB HAEMOSTASIS, V85, P1120; Jadaon MM, 2005, J THROMB HAEMOST, V3, P1467, DOI 10.1111-j.1538-7836.2005.01326.x; Kostka H, 2003, BLOOD COAGUL FIBRIN, V14, P49, DOI 10.1097-01.mbc.0000046197.72384.42; Lecumberri R, 2003, HAEMATOLOGICA, V88, P236; Luddington R, 2000, THROMB HAEMOSTASIS, V83, P204; Lunghi B, 1996, THROMB HAEMOSTASIS, V75, P45; Margaglione M, 2002, THROMB HAEMOSTASIS, V87, P32; Pecheniuk NM, 2001, BLOOD COAGUL FIBRIN, V12, P201, DOI 10.1097-00001721-200104000-00006; PITTMAN DD, 1994, J BIOL CHEM, V269, P17329; ROSING J, 1980, J BIOL CHEM, V255, P274; Yanqing Hu, 2003, Thrombosis and Haemostasis, V89, P446
dc.description.citedCount 16
dc.description.citedTotWOSCount 14
dc.description.citedWOSCount 14
dc.format.extentCount 3
dc.identifier.coden PTLGA
dc.identifier.pubmedID 17008284
dc.identifier.scopusID 33749159656
dc.relation.ispartOfISOAbbr Pathology
dc.relation.ispartOfIssue 5
dc.relation.ispartofPubTitle Pathology
dc.relation.ispartofPubTitleAbbr Pathology
dc.relation.ispartOfVolume 38
dc.source.ID WOS:000241858000010
dc.type.publication Journal
dc.subject.otherAuthKeyword Factor V
dc.subject.otherAuthKeyword HR2 haplotype
dc.subject.otherAuthKeyword Lebanese population
dc.subject.otherAuthKeyword Polymorphism
dc.subject.otherAuthKeyword Prevalence
dc.subject.otherChemCAS blood clotting factor 5, 9001-24-5, 9013-23-4
dc.subject.otherChemCAS Factor V, 9001-24-5
dc.subject.otherIndex blood clotting factor 5
dc.subject.otherIndex adolescent
dc.subject.otherIndex adult
dc.subject.otherIndex aged
dc.subject.otherIndex article
dc.subject.otherIndex DNA extraction
dc.subject.otherIndex female
dc.subject.otherIndex gene expression
dc.subject.otherIndex gene frequency
dc.subject.otherIndex gene identification
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genetic polymorphism
dc.subject.otherIndex genetic screening
dc.subject.otherIndex haplotype
dc.subject.otherIndex heterozygosity
dc.subject.otherIndex homozygosity
dc.subject.otherIndex human
dc.subject.otherIndex hybridization
dc.subject.otherIndex Lebanon
dc.subject.otherIndex male
dc.subject.otherIndex normal human
dc.subject.otherIndex phenotype
dc.subject.otherIndex polymerase chain reaction
dc.subject.otherIndex prevalence
dc.subject.otherIndex register
dc.subject.otherIndex risk factor
dc.subject.otherIndex venous thromboembolism
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Adult
dc.subject.otherIndex Aged
dc.subject.otherIndex Factor V
dc.subject.otherIndex Female
dc.subject.otherIndex Gene Frequency
dc.subject.otherIndex Genetic Predisposition to Disease
dc.subject.otherIndex Heterozygote
dc.subject.otherIndex Heterozygote Detection
dc.subject.otherIndex Humans
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Male
dc.subject.otherIndex Middle Aged
dc.subject.otherIndex Polymerase Chain Reaction
dc.subject.otherIndex Polymorphism, Genetic
dc.subject.otherIndex Venous Thrombosis
dc.subject.otherKeywordPlus ACTIVATED PROTEIN-C
dc.subject.otherKeywordPlus HR2 HAPLOTYPE
dc.subject.otherKeywordPlus VENOUS THROMBOSIS
dc.subject.otherKeywordPlus RISK-FACTOR
dc.subject.otherKeywordPlus FACTOR VHR2
dc.subject.otherKeywordPlus RESISTANCE
dc.subject.otherKeywordPlus ASSOCIATION
dc.subject.otherKeywordPlus LEIDEN
dc.subject.otherKeywordPlus THROMBOEMBOLISM
dc.subject.otherKeywordPlus ALLELE
dc.subject.otherWOS Pathology

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