Journal Article

Causal association between different types of ametropia and risk of diabetic retinopathy: a two-sample Mendelian randomization study

Wang, Tianyu, Ma, Qian, Chen, Jinbo, Wang, Sangsang, Zhang, Zhe, Shao, Yongqing, Yao, Hongyan

2025

Overview

ObjectiveTo investigate the causal link between ametropia and diabetic retinopathy, as well as to offer genetic support for the association between these two conditions.MethodsThis study employed a methodology involving the utilisation of genome-wide association studies data that are publicly accessible. Specifically, single nucleotide polymorphisms (SNPs) that exhibit a strong association with ametropia were employed as instrumental variables, and a two-sample Mendelian randomization (MR) approach was employed to examine the causal relationship between different types of ametropia and diabetic retinopathy. The main findings were derived from the utilisation of inverse variance weighted (IVW), while supplementary results were obtained through the utilisation of MR Egger, weighted median, simple mode and weighted mode. Additionally, a sensitivity analysis was conducted using the ‘leave-one-out’ method. Cochran’s Q statistics were also used to quantify the heterogeneity of SNPs.Results38 SNPs were finally included. The results of the IVW analysis indicate that myopia may exert an inhibitory effect on the development of diabetic retinopathy (OR=0.596, 95% CI (0.371, 0.957), p<0.05). Conversely, hypermetropia (OR=8.882, 95% CI (0.389×10-3, 2.06×105), p>0.05) and astigmatism (OR=1.004, 95% CI (0.888, 1.135), p>0.05) do not exhibit a causal relationship with the risk of diabetic retinopathy.ConclusionThis two-sample Mendelian randomization study provides evidence that myopia may impede diabetic retinopathy occurrence, while hypermetropia and astigmatism show no significant causal effects. However, our analysis treats refractive errors as independent entities, which may not reflect their clinical interdependence. Further investigations are warranted to elucidate myopia’s protective mechanisms.

• Publisher: BMJ Publishing Group Ltd,BMJ Publishing Group LTD,BMJ Publishing Group
• Subject: Astigmatism / Biobanks / Blindness / Body mass index / Causality / Confounding (Statistics) / Diabetes / Diabetic retinopathy / Diabetic Retinopathy - epidemiology / Diabetic Retinopathy - etiology / Diabetic Retinopathy - genetics / Genetic Predisposition to Disease / Genome-Wide Association Study / Humans / Influence / Mendelian Randomization Analysis / Mendelian Randomization Analysis - methods / Myopia / Observational studies / Optics and Refraction / Original research / Polymorphism, Single Nucleotide / Population / Refractive Errors - complications / Refractive Errors - genetics / Risk Factors / Statistical power / Variables / Vision / Visual impairment