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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.
摘要：
常见的与年龄相关的眼疾包括青光眼，白内障,和年龄相关性黄斑变性（AMD）；然而，人们对他们与年龄的关系知之甚少。这项研究使用来自多种族人群的遗传数据调查了青光眼与AMD合并白内障之间的潜在因果关系。使用日本BioBank和UKBiobank的荟萃分析数据，从全基因组关联研究中选择与暴露于白内障相关的单核苷酸多态性（SNP）作为工具变量（IV）。进行了双向双样本孟德尔随机化（MR）研究，以使用逆方差加权评估因果估计，MR-Egger,和MR多效性残差和异常值测试。选择具有（p<5.0×10-8）的SNP作为白内障的IVs，原发性开角型青光眼,和AMD。我们没有发现白内障对青光眼或AMD的因果效应(均p>0.05)。此外，AMD对白内障无因果关系(比值比[OR]=1.02,p=0.400).然而,青光眼对白内障有显著的因果关系(OR=1.14,p=0.020).我们的研究没有发现白内障与青光眼或AMD的因果关系以及AMD对白内障的偶然影响的证据。尽管如此，青光眼与白内障形成有因果关系，表明未来需要对年龄相关的眼病进行调查。
