title: Prevalence of genetic prothrombotic risk factors: 1691G > A FV, 20210G > A PT and 677C > T MTHFR mutations in the Bosnian population.
abstract: BACKGROUND
  Venous thrombosis (VT) affects 1-2 out of 10(3) individuals each year. Mutations of 1691G > A FV gene, 20210G > A PT gene and 677C > T gene MTHFR are common in Europe and increase the risk of venous thrombosis. To the authors' knowledge, this is the first report on the prevalence of these mutations in the general population of Bosnia and Herzegovina.
  
  
  OBJECTIVE
  The aim of this study was to simultaneously analyse main VT associated polymorphisms and compare the results with those published for other European populations.
  
  
  METHODS
  Electronic databases including Medline and Embase were searched from 1995 to December 2013.
  
  
  METHODS
  The subjects of the study consisted of 100 unrelated healthy people from Bosnia and Herzegovina (82 female and 18 male). The mean age of the cohort was 58.8 (± 10.7) years. PCR-RFLP was used for measurement of allele frequencies.
  
  
  RESULTS
  All three SNPs were found to be polymorphic, with allele frequencies of 6.0%, 6.0% and 37.5% for 1691A FV, 20210A PT and 677T MTHFR, respectively.
  
  
  CONCLUSIONS
  Further studies on larger cohorts with an adequate female-to-male ratio are necessary to confirm a high prevalence of hereditary thrombophilia in the Bosnian population.
authors.affiliation: a Department of Gerontobiology , Pomeranian Medical University , Szczecin , Poland .
authors.forename: Grażyna
authors.initials: G
authors.lastname: Adler
authors.affiliation: a Department of Gerontobiology , Pomeranian Medical University , Szczecin , Poland .
authors.forename: Garstka
authors.initials: G
authors.lastname: Agnieszka
authors.affiliation: b Laboratory for Molecular Medicine , Center for Genetics, Medical Faculty, University of Sarajevo , Sarajevo , Bosnia and Herzegovina .
authors.forename: Amina
authors.initials: A
authors.lastname: Valjevac
authors.affiliation: c Central Laboratory , Regional Hospital , Szczecin , Poland .
authors.forename: Ewa
authors.initials: E
authors.lastname: Czerska
authors.affiliation: d Department of Medical Biochemistry, Faculty of Medicine , University of Sarajevo , Cekalusa 90 , Sarajevo , Bosnia and Herzegovina , and.
authors.forename: Emina
authors.initials: E
authors.lastname: Kiseljakovic
authors.affiliation: e Department of Gastroenterology and Hepatology , University Clinical Center Tuzla , Tuzla , Bosnia and Herzegovina.
authors.forename: Nermin Nusret
authors.initials: NN
authors.lastname: Salkic
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017522:Bosnia and Herzegovina; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D019851:Thrombophilia / Q000453:epidemiology* / Q000235:genetics; D055815:Young Adult
chemical_list: D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Allele frequency; genetic factors; population genetics; thrombophilic mutations