title: Prevalence of factor V R2 (H1299R) polymorphism in the Lebanese population.
abstract: OBJECTIVE
  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 9.5-15.2% 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 degrees 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 (10.4%) had the HR2 haplotype; 11 (8.8%) were heterozygous (R1/R2), and two (1.6%) 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 (10.4%). The hypothesis that A4070G polymorphism might contribute to the expression of a thrombotic phenotype deserves to be tested in our population through larger studies.
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Lebanon.
authors.forename: Ghazi S
authors.initials: GS
authors.lastname: Zaatari
authors.forename: Zaher K
authors.initials: ZK
authors.lastname: Otrock
authors.forename: Amira S
authors.initials: AS
authors.lastname: Sabbagh
authors.forename: Rami A R
authors.initials: RA
authors.lastname: Mahfouz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020246:Venous Thrombosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005165:Factor V