title: Frequency of genetic mutations associated with thromboembolism in the Western Black Sea Region.
abstract: OBJECTIVE
  We aimed to determine the prevalences of important genetic causes of thromboembolism for the first time in the western Black Sea Region of Turkey.
  
  
  METHODS
  One hundred and eighty-eight patients diagnosed early with thrombophilia were included in the study. The samples were genotyped using real-time LightCycler.
  
  
  RESULTS
  Of the 188 patients, 179 (95.2%) had one or more mutations. The frequencies of Factor V (FV) Leiden (FVL, G1691A), FV H1299R (A1299G), Factor II (FII G20210A), methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C were 11.7%, 5.6%, 2.5%, 30.4% and 39.1%, respectively. FV1691A was commonly represented in deep venous thrombosis (34.2%). The highest frequencies of FV1299G and FII20210A were in the vascular headache and deep venous thrombosis groups (10% and 10.5%, respectively). MTHFR677T was common in the pulmonary embolism (37%). MTHFR1298C frequency was 55.9% in recurrent abortus. Within-group comparisons yielded significant differences in the distributions of the FVL and FV H1299R mutations (p=0.002 and p=0.039, respectively).
  
  
  CONCLUSIONS
  There were significant positive associations between venous thromboembolism and FVL and FV H1299R. FVL mutation in DVT may be an important predisposing factor that needs to be tested routinely in this population.
authors.affiliation: Department of Medical Genetics, Abant Izzet Baysal University, Izzet Baysal Medical School, Turkey. esratug@hotmail.com
authors.forename: Esra
authors.initials: E
authors.lastname: Tug
authors.forename: Hatip
authors.initials: H
authors.lastname: Aydin
authors.forename: Ebru
authors.initials: E
authors.lastname: Kaplan
authors.forename: Dilek
authors.initials: D
authors.lastname: Dogruer
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D013923:Thromboembolism / Q000097:blood / Q000209:etiology / Q000235:genetics*; D019851:Thrombophilia / Q000097:blood / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D014421:Turkey / Q000453:epidemiology
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)