The effect of coagulation traits on the risk of retinal vein occlusion: a mendelian randomization study

Sci Rep. 2025 Jan 24;15(1):3052. doi: 10.1038/s41598-025-87648-7.

Abstract

Retinal vein occlusion (RVO) is the leading cause of vision loss due to an obstruction in the retinal venous system. While RVO is often linked to thrombotic tendencies and coagulation abnormalities, the exact role of coagulation traits in its development is not fully understood. This study aims to investigate the potential causal relationship between coagulation traits and the risk of RVO by analyzing publicly available genome-wide association study (GWAS) summary statistics. A two-sample Mendelian randomization (MR) analysis framework was employed to investigate the causal relationship between coagulation traits and the risk of RVO. Stringent quality control measures were applied to select appropriate instrumental variables strongly linked to exposure, such as coagulation factor III (FIII), coagulation factor V (FV), coagulation factor VIII (FVIII), coagulation factor XI (FXI), coagulation factor VII (FVII) and coagulation factor X (FX), as well as plasmin, platelet count, platelet crit (PCT), mean platelet volume (MPV), and platelet distribution width (PDW). The study utilized the FinnGen project RVO GWAS summary statistics cohort, consisting of 372 RVO cases and 182,573 controls. The analysis focused on 11 coagulation traits. The research suggests that genetically predicted plasma levels of FIII, FVII, MPV, and PCT may be potentially causative for reducing the risk of RVO, and that levels of FVIII may be potentially causative for increasing the risk of RVO. Our MR analysis, utilizing GWAS data from a comprehensive population-based study, revealed a causal association between plasma levels of FIII, FVII, FVIII, MPV, and PCT with the risk of RVO.

Keywords: Causal association; Coagulation factor; Mendelian randomization; Platelet parameter; Retinal vein occlusion; Risk.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Coagulation Factors* / genetics
  • Blood Coagulation* / genetics
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Mendelian Randomization Analysis*
  • Polymorphism, Single Nucleotide
  • Retinal Vein Occlusion* / blood
  • Retinal Vein Occlusion* / genetics
  • Risk Factors

Substances

  • Blood Coagulation Factors