title: Frequency of three prothrombotic polymorphisms among Syrian population: factor V G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase C677T.
abstract: BACKGROUND
  Thrombophilia is a multi-factorial disorder caused by inherited and acquired factors. Among the inherited factors are factor V G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T single nucleotide polymorphisms (SNPs).
  
  
  OBJECTIVE
  The main aim of this study was to assess the incidence of these three SNPs in the Syrian population.
  
  
  METHODS
  A total of 200 unrelated healthy Syrians (100 males and 100 females) were recruited.
  
  
  RESULTS
  The prevalence of factor V G1691A, prothrombin G20210A and MTHFR C677T SNPs among Syrians is 11.5%, 2.5% and 84.5%, respectively. Prevalence of factor V G1691A and prothrombin G20210A SNPs among apparently healthy Syrian individuals is very high.
  
  
  CONCLUSIONS
  To the best of the authors knowledge, the Syrian population harbours the highest prevalence of the MTHFR C677T polymorphism compared to all other populations reported so far.
authors.affiliation: a Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria (AECS) , Damascus , Syria.
authors.forename: Rami A
authors.initials: RA
authors.lastname: Jarjour
authors.affiliation: a Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria (AECS) , Damascus , Syria.
authors.forename: Samer
authors.initials: S
authors.lastname: Ammar
authors.affiliation: a Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria (AECS) , Damascus , Syria.
authors.forename: Rami
authors.initials: R
authors.lastname: Majdalawi
mesh_terms: D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D013593:Syria; D013927:Thrombosis / Q000201:enzymology* / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Syria; mutation; thrombophilia