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Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study
Thomas H Julian1,2, Zain Girach3, Eleanor Sanderson4
1Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
This study identified eleven traits linked to primary open angle glaucoma (POAG) risk, including diabetes and intraocular pressure. Future research on adiposity, cadherin 5, and angiopoietin-1 receptor may inform POAG therapies.
Area of Science:
- Ophthalmology and Genetics
- Neurodegenerative disease research
Background:
- Primary open angle glaucoma (POAG) is a common, adult-onset optic neuropathy.
- Identifying modifiable risk factors is crucial for managing this neurodegenerative condition.
Purpose of the Study:
- To identify modifiable risk factors for primary open angle glaucoma (POAG) using a phenome-wide Mendelian randomization study.
- To analyze the relationship between 9661 traits and POAG risk.
Main Methods:
- Phenome-wide univariable Mendelian randomization (MR) study.
- Analysis of 9661 traits against POAG.
- Utilized weighted mode based estimation, weighted median, MR Egger, and inverse variance weighted (IVW) methods.
Main Results:
- Eleven traits were significantly associated with POAG risk.
- Key associations include intraocular pressure (OR=2.46-3.79), diabetes (OR=5.17), and waist circumference (OR=0.79).
- Serum levels of angiopoietin-1 receptor (OR=1.11) and cadherin 5 (OR=1.06) were also identified.
Conclusions:
- Findings highlight potential modifiable risk factors for POAG.
- Further investigation into adiposity, cadherin 5, and angiopoietin-1 receptor could inform lifestyle advice and novel treatments.
- This research contributes to understanding POAG pathogenesis and prevention.
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