ArticleScientific reports2020
Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 16 citations in OpenAlex.
- An Integrated muti-omics cell atlas of the human trabecular meshwork and ciliary body.bioRxiv : the preprint server for biology · 2026Article
- PIEZO channels in the eye: unveiling a mechanical code in ocular physiology and disease.Science China. Life sciences · 2025Article
- Visualizing PIEZO1 localization and activity in hiPSC-derived single cells and organoids with HaloTag technology.Nature communications · 2025Article
- Review
- Biomechanical properties of the trabecular meshwork in intraocular pressure regulation: a review.International ophthalmology · 2025Review
- Visualizing PIEZO1 Localization and Activity in hiPSC-Derived Single Cells and Organoids with HaloTag Technology.bioRxiv : the preprint server for biology · 2025Article
- Piezo in the eye: expression, distribution and roles in ocular diseases.Frontiers in physiology · 2025Review
- The Mechanobiological Hypothesis of Piezo Family-Mediated Exercise Intervention in Spinal Cord Injury Recovery.Neural plasticity · 2025Review
- Mechanosensitive ion channels in glaucoma pathophysiology.Vision research · 2024Review
- The Variety of Mechanosensitive Ion Channels in Retinal Neurons.International journal of molecular sciences · 2024Review
- Mechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucoma.Scientific reports · 2023Article
- Review
- Global PIEZO1 Gain-of-Function Mutation Causes Cardiac Hypertrophy and Fibrosis in Mice.Cells · 2022Article
- Nobel somatosensations and pain.Pflugers Archiv : European journal of physiology · 2022Review
- Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Glaucoma disproportionately affects individuals of African descent. Prior studies of the PIEZO1 mechanoreceptor have suggested a possible role in glaucoma pathophysiology. Here, we investigated associations between a Piezo1 gain-of-function variant common in individuals of African descent with glaucoma-related phenotypes. We analyzed whole genome sequences to identify Piezo1 variants and their frequencies among 1565 human participants. For the most common variant (e756del), we compared phenotypes between heterozygotes, homozygotes, and wildtypes. Longitudinal mixed effects models of visual field mean deviation (MD) and retinal nerve fiber layer (RNFL) thickness were used to evaluate progression. Based on trends in the models, further investigation was conducted using Piezo1 gain-of-function mice. About 30% of African descent individuals had at least one e756del allele. There were trends suggesting e756del was associated with higher IOPs, thinner RNFLs, lower optic nerve head capillary densities, and greater decreases in MD and RNFL thickness over time, but these did not reach statistical significance. Among mice, increased Piezo1 activity was not significantly associated with IOP or retinal ganglion cell density. Our study confirms that the Piezo1 e756del gain-of-function variant is a frequent polymorphism present in African descent individuals but is unrelated to examined differences in glaucoma phenotypes. Ongoing work is needed to elucidate the role of Piezo1-mediated mechanotransduction in glaucoma.
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