Causal Associations of Glaucoma and Age-Related Macular Degeneration with Cataract: A Bidirectional Two-Sample Mendelian Randomisation Study

Genes (Basel). 2024 Mar 26;15(4):413. doi: 10.3390/genes15040413.

Abstract

Common age-related eye disorders include glaucoma, cataract, and age-related macular degeneration (AMD); however, little is known about their relationship with age. This study investigated the potential causal relationship between glaucoma and AMD with cataract using genetic data from multi-ethnic populations. Single-nucleotide polymorphisms (SNPs) associated with exposure to cataract were selected as instrumental variables (IVs) from genome-wide association studies using meta-analysis data from BioBank Japan and UK Biobank. A bidirectional two-sample Mendelian randomisation (MR) study was conducted to assess the causal estimates using inverse variance weighted, MR-Egger, and MR pleiotropy residual sum and outlier tests. SNPs with (p < 5.0 × 10-8) were selected as IVs for cataract, primary open-angle glaucoma, and AMD. We found no causal effects of cataract on glaucoma or AMD (all p > 0.05). Furthermore, there were no causal effects of AMD on cataract (odds ratio [OR] = 1.02, p = 0.400). However, glaucoma had a substantial causal effect on cataract (OR = 1.14, p = 0.020). Our study found no evidence for a causal relationship of cataract on glaucoma or AMD and a casual effect of AMD on cataract. Nonetheless, glaucoma demonstrates a causal link with cataract formation, indicating the need for future investigations of age-related eye diseases.

Keywords: Mendelian randomisation; age-related macular degeneration; cataract; primary open-angle glaucoma; single-nucleotide polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't
  • Meta-Analysis

MeSH terms

  • Cataract* / genetics
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Glaucoma* / genetics
  • Glaucoma, Open-Angle / epidemiology
  • Glaucoma, Open-Angle / genetics
  • Humans
  • Japan / epidemiology
  • Macular Degeneration* / epidemiology
  • Macular Degeneration* / genetics
  • Mendelian Randomization Analysis*
  • Polymorphism, Single Nucleotide*