Role of factor XIII Val34Leu polymorphism in retinal artery occlusion

Stroke. 2001 Dec 1;32(12):2759-61. doi: 10.1161/hs1201.99889.

Abstract

Background and purpose: Factor XIII (FXIII) Val34Leu, a common polymorphism in the gene for factor XIII, has been associated with a lower risk of stroke, myocardial infarction, and deep vein thrombosis. Ineffective fibrin cross-linking has been suggested to be causative. The aim of the present case-control study was to investigate the role of FXIII Val34Leu polymorphism in patients with retinal artery occlusion.

Methods: A total of 108 patients with retinal artery occlusion and 313 age- and sex-matched controls were genotyped for the FXIII Val34Leu polymorphism. Factor XIII Val34Leu genotypes were determined by use of allele-specific polymerase chain reaction.

Results: Homozygous Leu genotype was found significantly more often in control subjects than in patients with retinal artery occlusion (P=0.018), with an odds ratio of 0.22 (95% confidence interval 0.07 to 0.74). Distribution of the Val/Val and Val/Leu genotypes did not differ significantly between groups.

Conclusions: Because prevalence of homozygous Leu genotype was significantly higher in controls, we conclude that the Leu/Leu genotype is associated with a protective effect against retinal artery occlusion.

MeSH terms

  • Adult
  • Age Distribution
  • Aged
  • Aged, 80 and over
  • Alleles
  • Amino Acid Substitution / genetics
  • Case-Control Studies
  • Factor XIII / genetics*
  • Female
  • Gene Frequency
  • Genetic Testing
  • Genotype
  • Homozygote
  • Humans
  • Immunity, Innate / genetics
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Prevalence
  • Retinal Artery Occlusion / epidemiology
  • Retinal Artery Occlusion / genetics*
  • Retrospective Studies
  • Risk Factors
  • Sex Distribution

Substances

  • Factor XIII