Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study

Thomas Julian, Zain Girach, Eleanor Sanderson, Hui Guo, Jonathan Yu, Johnathan Cooper-Knock, Graeme Black, Panos Sergouniotis

Research output: Contribution to journalArticlepeer-review


Primary open angle glaucoma (POAG) is a chronic, adult-onset optic neuropathy associated with characteristic optic disc and/or visual field changes. With a view to identifying modifiable risk factors for this debilitating condition, we performed a ‘phenome-wide’ univariable Mendelian randomisation (MR) study and analysed the relationship between 9,661 traits and POAG. Data were analysed using the weighted median method, weighted mode based estimation, the MR Egger method and the inverse variance weighted (IVW) approach. Our analysis identified 11 traits related to POAG risk including: serum levels of the angiopoietin-1 receptor (OR [odds ratio] = 1.11, IVW p= 2.34E-06) and the cadherin 5 protein (OR= 1.06, IVW p= 1.31E-06); intraocular pressure (OR=2.46 - 3.79, IVW p=8.94E-44 - 3.00E-27); diabetes (OR=5.17, beta=1.64, IVW p = 9.68E-04); and waist circumference (OR = 0.79, IVW p=1.66E-05). Future research focussing on the effects of diabetes, waist circumference, serum cadherin 5 and serum angiopoietin-1 receptor on POAG development and progression is expected to provide key insights that might inform the provision of lifestyle modification advice and/or the development of novel therapies.
Original languageEnglish
JournalScientific Reports
Publication statusAccepted/In press - 16 Jun 2023


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