title: Role of thrombophilic gene polymorphisms in branch retinal vein occlusion.
abstract: OBJECTIVE
  Branch retinal vein occlusion (BRVO) is a common cause of severe visual loss. Numerous risk factors, including arterial hypertension, diabetes mellitus, and arteriosclerosis, have been identified. Gene polymorphisms affecting hemostasis may also play a role in the pathogenesis of BRVO. The present study was therefore done to determine the prevalence of genetic polymorphisms in factors implicated in hypercoagulability among patients with BRVO.
  
  
  METHODS
  Retrospective case-control study.
  
  
  METHODS
  The study cohort consisted of 294 patients with BRVO and 294 control subjects, matched for age and gender.
  
  
  METHODS
  Determination of genotypes was done by allele-specific digestion of polymerase chain reaction products, or by 5' exonuclease assay (TaqMan).
  
  
  METHODS
  Genotypes of factor V R506Q (factor V Leiden), prothrombin 20210G>A, fibrinogen beta -455G> A, factor XII (FXII) 46C>T, and ITGA2 807C>T (platelet glycoprotein Ia [GPIa] 807C>T) and ITGB3 L59P (platelet GPIIIa PlA1/PlA2) polymorphisms.
  
  
  RESULTS
  Genotype distributions of the investigated gene polymorphisms did not differ significantly between patients and control subjects. In contrast, significantly increased prevalences of arterial hypertension and hypercholesterolemia were found among patients with BRVO. In a logistic regression analysis, the presence of arterial hypertension was associated with an odds ratio (OR) of 2.32 (95% confidence interval [CI], 1.62-3.32), whereas hypercholesterolemia yielded an OR of 2.54 (95% CI, 1.74-3.70) for BRVO.
  
  
  CONCLUSIONS
  Our data indicate that the prevalences of the investigated gene polymorphisms do not differ significantly in patients with BRVO and control subjects. This suggests that these polymorphisms are not major risk factors for BRVO.
authors.affiliation: Department of Ophthalmology, Medical University Graz, Graz, Austria. martin.weger@meduni-graz.at
authors.forename: Martin
authors.initials: M
authors.lastname: Weger
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
authors.forename: Iris
authors.initials: I
authors.lastname: Steinbrugger
authors.forename: Lisa
authors.initials: L
authors.lastname: Cichocki
authors.forename: Werner
authors.initials: W
authors.lastname: Temmel
authors.forename: Olaf
authors.initials: O
authors.lastname: Stanger
authors.forename: Yosuf
authors.initials: Y
authors.lastname: El-Shabrawi
authors.forename: Helga
authors.initials: H
authors.lastname: Lechner
authors.forename: Otto
authors.initials: O
authors.lastname: Schmut
authors.forename: Anton
authors.initials: A
authors.lastname: Haas
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005174:Factor XII / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000235:genetics; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics; D006973:Hypertension / Q000235:genetics; D039421:Integrin alpha2 / Q000235:genetics; D039661:Integrin beta3 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000502:physiology*; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics; D012170:Retinal Vein Occlusion / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics*
chemical_list: D039421:Integrin alpha2; D039661:Integrin beta3; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005174:Factor XII; D005340:Fibrinogen