Zhang Zicheng, Bao Siqi, Yan Dongxue, Zhai Modi, Qu Jia, Zhou Meng
School of Biomedical Engineering, School of Information and Communication Engineering, Hainan University, Haikou, 570228, China.
National Clinical Research Center for Ocular Diseases, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Mol Neurobiol. 2025 Mar;62(3):3182-3194. doi: 10.1007/s12035-024-04456-2. Epub 2024 Sep 6.
Observational studies and clinical trials have reported potential associations between retinal diseases and psychiatric disorders. However, the causal associations between them have remained elusive. In this study, we used bi-directional two-sample Mendelian randomization (MR) analysis to explore unconfounded causal relationships between retinal diseases and psychiatric disorders using large-scale genome-wide association study (GWAS) summary statistics of over 500,000 participants of European ancestry from the FinnGen project, the Psychiatric Genomics Consortium, the European Bioinformatics Institute, and the UK Biobank. Our MR analysis revealed significant causal relationships between major retinal diseases and specific psychiatric disorders. Specifically, susceptibility to dry age-related macular degeneration was associated with a reduced risk of anorexia nervosa (OR = 0.970; 95% CI = 0.930 ~ 0.994; P = 0.025). Furthermore, we found some evidence that exposure to diabetic retinopathy was associated with an increased risk of schizophrenia (OR = 1.021; 95% CI 1.012 ~ 1.049; P = 0.001), and exposure to retinal detachments and breaks was associated with an increased risk of attention deficit hyperactivity disorder (OR = 1.190; 95% CI 1.063 ~ 1.333; P = 0.003). These causal relationships were not confounded by biases of pleiotropy and reverse causation. Our study highlights the importance of preventing and managing retinal disease as a potential avenue for improving the prevention, management and treatment of major psychiatric disorders.
观察性研究和临床试验报告了视网膜疾病与精神障碍之间的潜在关联。然而,它们之间的因果关系仍不明确。在本研究中,我们使用双向两样本孟德尔随机化(MR)分析,利用来自芬兰基因项目、精神疾病基因组学联盟、欧洲生物信息学研究所和英国生物银行的50多万欧洲血统参与者的大规模全基因组关联研究(GWAS)汇总统计数据,探索视网膜疾病与精神障碍之间无混杂因素的因果关系。我们的MR分析揭示了主要视网膜疾病与特定精神障碍之间的显著因果关系。具体而言,干性年龄相关性黄斑变性易感性与神经性厌食症风险降低相关(OR = 0.970;95%CI = 0.930至0.994;P = 0.025)。此外,我们发现一些证据表明,患糖尿病性视网膜病变与精神分裂症风险增加相关(OR = 1.021;95%CI 1.012至1.049;P = 0.001),而视网膜脱离和裂孔与注意力缺陷多动障碍风险增加相关(OR = 1.190;95%CI 1.063至1.333;P = 0.003)。这些因果关系不受多效性和反向因果关系偏差的混杂影响。我们的研究强调了预防和管理视网膜疾病作为改善主要精神障碍预防、管理和治疗的潜在途径的重要性。