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青光眼病因的孟德尔随机化分析研究进展

Research progress of Mendelian randomization analysis for glaucoma etiology.

作者信息

Wang Jiao-Man, Song Yin-Wei, Su Jing-Jing, Fu Li-Cheng, Gong Di, Guo Ping, Yang Wei-Hua

机构信息

The 2nd Clinical Medical College of Jinan University, Shenzhen 518000, Guangdong Province, China.

Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology), Shenzhen 518020, Guangdong Province, China.

出版信息

Int J Ophthalmol. 2025 Jul 18;18(7):1383-1397. doi: 10.18240/ijo.2025.07.23. eCollection 2025.

DOI:10.18240/ijo.2025.07.23
PMID:40688780
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12207291/
Abstract

In recent years, Mendelian randomization (MR) has been increasingly utilized, leveraging genetic variants as instrumental variables. This approach significantly mitigates confounder effects and reverse causation, precisely clarifying the causal links between exposures and outcomes. MR's unique advantages have made it instrumental in medicine, especially in elucidating glaucoma's etiology. It facilitates the identification of potential risk factors, laying the groundwork for developing preventative and therapeutic strategies against glaucoma. Recent MR research has delved into diverse potential glaucoma risk factors, including behavioral habits, metabolic profiles, and their causative linkage to the disease. This review encapsulates MR's analysis in glaucoma etiology, heralding new avenues for understanding underlying mechanisms and establishing causality.

摘要

近年来,孟德尔随机化(MR)的应用越来越广泛,它利用基因变异作为工具变量。这种方法显著减轻了混杂因素的影响和反向因果关系,精确地阐明了暴露因素与结局之间的因果联系。MR的独特优势使其在医学领域发挥了重要作用,尤其是在阐明青光眼的病因方面。它有助于识别潜在的风险因素,为制定青光眼的预防和治疗策略奠定基础。最近的MR研究深入探讨了各种潜在的青光眼风险因素,包括行为习惯、代谢特征及其与该疾病的因果联系。本综述总结了MR在青光眼病因学中的分析,为理解潜在机制和确立因果关系开辟了新途径。

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本文引用的文献

1
Racial and Ethnic Differences in the Association Between Statin Use and the Risk of Ocular Hypertension and Open-Angle Glaucoma.他汀类药物使用与高眼压症和开角型青光眼风险之间关联的种族和民族差异。
Am J Ophthalmol. 2025 Apr 7;276:117-125. doi: 10.1016/j.ajo.2025.04.003.
2
The protective role of water intake in age-related eye diseases: insights from a Mendelian randomization study.饮水对与年龄相关眼病的保护作用:来自孟德尔随机研究的见解。
Food Funct. 2024 May 7;15(9):5147-5157. doi: 10.1039/d4fo01559b.
3
Causal Associations of Glaucoma and Age-Related Macular Degeneration with Cataract: A Bidirectional Two-Sample Mendelian Randomisation Study.青光眼和年龄相关性黄斑变性与白内障的因果关联:一项双向双样本孟德尔随机化研究
Genes (Basel). 2024 Mar 26;15(4):413. doi: 10.3390/genes15040413.
4
Possible Causal Association between Type 2 Diabetes and Glycaemic Traits in Primary Open-Angle Glaucoma: A Two-Sample Mendelian Randomisation Study.2型糖尿病与原发性开角型青光眼血糖特征之间可能的因果关联:一项两样本孟德尔随机化研究
Biomedicines. 2024 Apr 15;12(4):866. doi: 10.3390/biomedicines12040866.
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Genetic correlation between circulating cytokines and risk of three ophthalmic diseases: a bidirectional two-sample Mendelian randomization study.循环细胞因子与三种眼病风险的遗传相关性:双向两样本 Mendelian 随机研究。
Hum Mol Genet. 2024 Jul 6;33(14):1241-1249. doi: 10.1093/hmg/ddae041.
6
Mendelian randomization study shows no causal relationship between psychiatric disorders and glaucoma in European and East Asian populations.孟德尔随机化研究表明,在欧洲和东亚人群中,精神疾病与青光眼之间不存在因果关系。
Front Genet. 2024 Mar 7;15:1349860. doi: 10.3389/fgene.2024.1349860. eCollection 2024.
7
Evaluation of the Observational Associations and Shared Genetics Between Glaucoma With Depression and Anxiety.青光眼与抑郁和焦虑之间的观察性关联及共同遗传学评估
Invest Ophthalmol Vis Sci. 2024 Mar 5;65(3):12. doi: 10.1167/iovs.65.3.12.
8
Causal associations between rheumatoid arthritis, cataract and glaucoma in European and East Asian populations: A bidirectional two-sample mendelian randomization study.类风湿关节炎、白内障和青光眼在欧洲和东亚人群中的因果关联:一项双向两样本孟德尔随机化研究。
PLoS One. 2024 Mar 4;19(3):e0299192. doi: 10.1371/journal.pone.0299192. eCollection 2024.
9
Assessment of Causality Between Diet-Derived Antioxidants and Primary Open-Angle Glaucoma: A Mendelian Randomization Study.饮食来源的抗氧化剂与原发性开角型青光眼之间因果关系的评估:一项孟德尔随机研究。
Transl Vis Sci Technol. 2024 Feb 1;13(2):20. doi: 10.1167/tvst.13.2.20.
10
No Evidence of Causal Association Between Atopic Dermatitis and Primary Open-Angle Glaucoma: A Bidirectional Two-Sample Mendelian Randomization Study.特应性皮炎与原发性开角型青光眼之间无因果关联的证据:一项双向双样本孟德尔随机化研究。
Dermatitis. 2024 Sep-Oct;35(5):508-512. doi: 10.1089/derm.2023.0380. Epub 2024 Feb 23.