title: Prothrombin polymorphism A19911G, factor V HR2 haplotype A4070G, and plasminogen activator-inhibitor-1 polymorphism 4G/5G and the risk of retinal vein occlusion.
abstract: Thus far, no data has become available to evaluate systematically the prevalences of prothrombin polymorphism A19911G (PT A19911G), factor V HR2 haplotype A4070G (FV A4070G), or plasminogen activator-inhibitor-1 polymorphism 4G/5G (PAI-1 4G/5G) in patients who develop retinal vein occlusion (RVO) without cardiovascular risk factors.
  
  
  
  We retrospectively evaluated comprehensive thrombophilia data from 42 preselected RVO patients without cardiovascular risk factors. The prevalences of different gene mutations and polymorphisms including factor V Leiden mutation G1691A (FVL), FV A4070G, prothrombin mutation G20210A, PT A19911G, and PAI-1 4G/5G were compared with 241 healthy controls matched for age and sex.
  
  
  
  A total of 20 patients (47.7%) were found to carry thrombophilic gene polymorphisms including FVL, FV A4070G, and homozygous PT A19911G compared with 72 of 241 controls (29.9%; p = 0.03). Subgroup analysis of patients with a significant personal or family history of thromboembolism revealed a high prevalence of FVL, FV A4070G, and homozygous PT A19911G (p = 0.005). FV A4070G was found to be significantly associated with at least two other heterozygous or one homozygous gene polymorphisms (p = 0.02). Multivariate analysis revealed the presence of FVL (p = 0.0017) and homozygous PT A19911G (p = 0.03) polymorphism as independent risk factors for the development of RVO.
  
  
  
  Our results indicate that in selected RVO patients screening for thrombophilic gene polymorphisms including FVL, FV A4070G and homozygous PT G19911A may be helpful in a high percentage of cases. Our findings suggest that hereditary thrombophilia associated with RVO is more likely to be multigenic than caused by any single risk factor.
authors.affiliation: a Department of Ophthalmology , Johann Wolfgang Goethe University Hospital , Frankfurt am Main , Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Kuhli-Hattenbach
authors.affiliation: b Institute of Hemostaseology and Transfusion Medicine , Ludwigshafen Hospital , Ludwigshafen , Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Hellstern
authors.affiliation: b Institute of Hemostaseology and Transfusion Medicine , Ludwigshafen Hospital , Ludwigshafen , Germany.
authors.forename: Dorit Karin
authors.initials: DK
authors.lastname: Nägler
authors.affiliation: a Department of Ophthalmology , Johann Wolfgang Goethe University Hospital , Frankfurt am Main , Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Kohnen
authors.affiliation: c Department of Ophthalmology , Ludwigshafen Hospital , Ludwigshafen , Germany.
authors.forename: Lars-Olof
authors.initials: LO
authors.lastname: Hattenbach
mesh_terms: D000328:Adult; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D012170:Retinal Vein Occlusion / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D019851:Thrombophilia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin
keywords: Branch retinal vein occlusion; Factor V Leiden mutation; Prothrombin polymorphism A19911G; central retinal vein occlusion; factor V HR2 haplotype A4070G; plasminogen activator-inhibitor-1 polymorphism 4G/5G; polymorphisms; thrombophilia