Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study
Abstract 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 common neurodegenerative condition, we performed a ‘phenome-wide’ univariable Mend...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-06-01
|
| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-37144-7 |
| _version_ | 1797795733808611328 |
|---|---|
| author | Thomas H. Julian Zain Girach Eleanor Sanderson Hui Guo Jonathan Yu Johnathan Cooper-Knock Graeme C. Black Panagiotis I. Sergouniotis |
| author_facet | Thomas H. Julian Zain Girach Eleanor Sanderson Hui Guo Jonathan Yu Johnathan Cooper-Knock Graeme C. Black Panagiotis I. Sergouniotis |
| author_sort | Thomas H. Julian |
| collection | DOAJ |
| description | Abstract 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 common neurodegenerative condition, we performed a ‘phenome-wide’ univariable Mendelian randomisation (MR) study that involved analysing the relationship between 9661 traits and POAG. Utilised analytical approaches included weighted mode based estimation, the weighted median method, the MR Egger method and the inverse variance weighted (IVW) approach. Eleven traits related to POAG risk were identified 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 adiposity, cadherin 5 and 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. |
| first_indexed | 2024-03-13T03:22:30Z |
| format | Article |
| id | doaj.art-b6590d0efc7f46cbb6a2f333cb03926f |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-13T03:22:30Z |
| publishDate | 2023-06-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-b6590d0efc7f46cbb6a2f333cb03926f2023-06-25T11:14:44ZengNature PortfolioScientific Reports2045-23222023-06-011311910.1038/s41598-023-37144-7Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation studyThomas H. Julian0Zain Girach1Eleanor Sanderson2Hui Guo3Jonathan Yu4Johnathan Cooper-Knock5Graeme C. Black6Panagiotis I. Sergouniotis7Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of ManchesterSheffield Medical School, University of SheffieldMRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of BristolCentre for Biostatistics, Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, University of ManchesterManchester Royal Eye Hospital, Manchester University NHS Foundation TrustDepartment of Neuroscience, Sheffield Institute for Translational Neuroscience (SITraN), University of SheffieldDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of ManchesterDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of ManchesterAbstract 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 common neurodegenerative condition, we performed a ‘phenome-wide’ univariable Mendelian randomisation (MR) study that involved analysing the relationship between 9661 traits and POAG. Utilised analytical approaches included weighted mode based estimation, the weighted median method, the MR Egger method and the inverse variance weighted (IVW) approach. Eleven traits related to POAG risk were identified 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 adiposity, cadherin 5 and 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.https://doi.org/10.1038/s41598-023-37144-7 |
| spellingShingle | Thomas H. Julian Zain Girach Eleanor Sanderson Hui Guo Jonathan Yu Johnathan Cooper-Knock Graeme C. Black Panagiotis I. Sergouniotis Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study Scientific Reports |
| title | Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study |
| title_full | Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study |
| title_fullStr | Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study |
| title_full_unstemmed | Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study |
| title_short | Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study |
| title_sort | causal factors in primary open angle glaucoma a phenome wide mendelian randomisation study |
| url | https://doi.org/10.1038/s41598-023-37144-7 |
| work_keys_str_mv | AT thomashjulian causalfactorsinprimaryopenangleglaucomaaphenomewidemendelianrandomisationstudy AT zaingirach causalfactorsinprimaryopenangleglaucomaaphenomewidemendelianrandomisationstudy AT eleanorsanderson causalfactorsinprimaryopenangleglaucomaaphenomewidemendelianrandomisationstudy AT huiguo causalfactorsinprimaryopenangleglaucomaaphenomewidemendelianrandomisationstudy AT jonathanyu causalfactorsinprimaryopenangleglaucomaaphenomewidemendelianrandomisationstudy AT johnathancooperknock causalfactorsinprimaryopenangleglaucomaaphenomewidemendelianrandomisationstudy AT graemecblack causalfactorsinprimaryopenangleglaucomaaphenomewidemendelianrandomisationstudy AT panagiotisisergouniotis causalfactorsinprimaryopenangleglaucomaaphenomewidemendelianrandomisationstudy |