Identifying the Involvement of Gut Microbiota in Retinal Vein Occlusion by Mendelian Randomization and Genetic Correlation Analysis

Transl Vis Sci Technol. 2025 Jan 2;14(1):5. doi: 10.1167/tvst.14.1.5.

Abstract

Purpose: Previous researches have suggested an important association between gut microbiota (GM) and vascular pathologies such as atherosclerosis. This study aimed to explore the association between 196 GM taxa and retinal vein occlusion (RVO).

Methods: This study used Mendelian randomization (MR), linkage disequilibrium score regression (LDSC), and polygenic overlap analysis. Genome-wide association study (GWAS) data associated with 196 GM taxa was obtained from the MiBioGen consortium, involving a large number of European-ancestry participants. GWAS data of RVO was obtained from the FinnGen consortium and another study that also involved European-ancestry participants. Inverse-variance weighted was used as the primary approach for MR estimation. Moreover, LDSC and polygenic overlap analyses were performed to evaluate the genetic correlation between GM taxa and RVO.

Results: The MR results identified the association of six GM taxa, including class Bacilli, order Lactobacillales, family Streptococcaceae, genus Clostridium innocuum group, genus Family XIII AD3011 group, and genus Subdoligranulum with the development of RVO. In addition, the polygenic overlap analysis supported the genetic association between GM and RVO.

Conclusions: Our findings confirmed the association between six GM taxa and the development of RVO, thereby highlighting the effects of GM on retinal vascular health.

Translational relevance: The results may provide the rationale for developing GM-based strategies for preventing the onset of RVO.

MeSH terms

  • Female
  • Gastrointestinal Microbiome* / genetics
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Linkage Disequilibrium
  • Male
  • Mendelian Randomization Analysis*
  • Middle Aged
  • Multifactorial Inheritance / genetics
  • Polymorphism, Single Nucleotide
  • Retinal Vein Occlusion* / genetics
  • Retinal Vein Occlusion* / microbiology