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Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia

Jiang, Xiaofan; Xu, Zihe; Soorma, Talha; Tariq, Ambreen; Bhatti, Taha; Baneke, Alexander J; Pontikos, Nikolas; ... Mahroo, Omar A; + view all (2022) Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia. Proceedings of the National Academy of Sciences of the United States of America (PNAS) , 119 (21) , Article e2119675119. 10.1073/pnas.2119675119. Green open access

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Abstract

SignificanceMyopia prevalence has increased dramatically over recent decades. Genome-wide association studies have identified numerous loci, but mechanisms by which genotypic identity confers myopia susceptibility are unknown. The common variant most strongly associated with myopia is near a gene encoding retinal gap junctions. We analyzed retinal electrophysiological responses from 186 twins genotyped at this locus, finding association between cone-driven, but not rod-driven, electroretinogram signals and allelic genotype. Examination of responses to further, nonstandard testing protocols, together with recordings from patients with selective loss of bipolar cell signals, points to an effect on cone-driven hyperpolarizing ("OFF") signals. The pattern of retinal expression of this gene appears consistent with these findings, which support a potential role for altered cone-driven signaling in myopia development.

Type: Article
Title: Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1073/pnas.2119675119
Publisher version: https://doi.org/10.1073/pnas.2119675119
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: OFF signaling pathways, electroretinography, gap junctions, myopia, retinal cone photoreceptor cells
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10149291
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