类风湿性关节炎与眼部疾病的风险：基于孟德尔随机化的研究

doi:10.12183/j.scjpm.2025.0030

摘要/Abstract

摘要： 目的采用孟德尔随机化方法（Mendelian randomization,MR）探究类风湿性关节炎（rheumatoid arthritis,RA）与眼部疾病的因果关系。方法 RA与眼部疾病的单核苷酸多态性（single nucleotide polymorphisms,SNPs）均来源于IEU（Integrative Epidemiology Unit）数据库的全基因组关联研究（Genome-Wide Association Study,GWAS）。研究采用逆方差加权法（inverse variance-weighted,IVW）、MR-Egger（Mendelian randomization-Egger）回归法等对RA与眼部疾病的因果关系进行MR分析,以IVW法为主要分析方法。结果 IVW法MR分析结果显示,RA与白内障风险增加存在因果关系（OR=1.043,95% CI：1.019~1.069,P<0.01）,与青光眼、年龄相关性黄斑变性（age-related macular degeneration,AMD）风险增加无统计学意义（均P>0.05）。反向两样本MR分析结果显示,白内障、青光眼与RA风险增加暂无因果关联证据（均P>0.05）。敏感性分析显示,结果比较稳健。多变量MR分析结果显示,RA是白内障（OR=1.036,95% CI：1.008~1.064,P=0.010）发病风险增加的危险因素,而RA与青光眼、AMD以及白内障、青光眼与RA的因果关联证据无统计学意义（均P>0.05）。结论 RA会增加白内障发生风险,不会增加青光眼以及AMD的发生风险。

关键词: 孟德尔随机化, 类风湿性关节炎, 眼部疾病, 因果推断

Abstract: Objective To explore the causal relationship between Rheumatoid Arthritis (RA) and ocular diseases using Mendelian randomization (MR). Methods The single nucleotide polymorphisms (SNPs) of RA and ocular diseases were extracted from the Genome-Wide Association Study (GWAS) available in the Integrative Epidemiology Unit (IEU) database. The study used inverse variance-weighted (IVW), MR-Egger regression, and other analytical methods to analyze the causal relationship between RA and ocular diseases by MR. The IVW approach was the principal analysis method. Results The IVW MR analysis revealed a causal association between RA and an increased risk of cataract (OR=1.043, 95% CI: 1.019-1.069, P<0.01), but not statistically significant with increased risk of glaucoma and age-related macular degeneration (AMD) (both P>0.05). The reverse two sample MR analysis indicated no current evidence of a causal association between cataract, glaucoma, and increased risk of RA. Sensitivity analysis showed that the results were relatively robust. By multivariate MR analysis, RA was associated with an increased risk of cataract (OR=1.036, 95% CI: 1.008-1.064, P=0.010). There was no evidence of a causal association between RA and glaucoma, AMD, or cataract, glaucoma, and RA (all P>0.05). Conclusions RA increases the risk of developing cataracts, but does not increase the risk of developing glaucoma or AMD.

Key words: Mendelian randomization, Rheumatoid arthritis, Ocular diseases, Causal inference

中图分类号:

R195.4

李文晟, 胡添, 吕媛, 查文婷, 易尚辉, 刘颖. 类风湿性关节炎与眼部疾病的风险：基于孟德尔随机化的研究[J]. 华南预防医学, 2025, 51(1): 30-35.

LI Wensheng, HU Tian, LYU Yuan, ZHA Wenting, YI Shanghui, LIU Ying. Rheumatoid arthritis and risk of ocular diseases: A study based on Mendelian randomization[J]. South China Journal of Preventive Medicine, 2025, 51(1): 30-35.

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