ArticleInvestigative ophthalmology & visual science2018
The MT-CO1 V83I Polymorphism is a Risk Factor for Primary Open-Angle Glaucoma in African American Men.
Article in Investigative ophthalmology & visual science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
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- AKAP1 regulates mitochondrial and synaptic homeostasis to enable neuroprotection and repair in retinal ganglion cell degeneration.bioRxiv : the preprint server for biology · 2025Article
- Restoring AIBP expression in the retina provides neuroprotection in glaucoma.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Multi-Omic Insight Into the Molecular Networks of Mitochondrial Dysfunction in the Pathogenesis of Primary Open-Angle Glaucoma.Translational vision science & technology · 2025Article
- AIBP Protects Müller Glial Cells Against Oxidative Stress-Induced Mitochondrial Dysfunction and Reduces Retinal Neuroinflammation.Antioxidants (Basel, Switzerland) · 2024Article
- Integrating Deep Learning with Electronic Health Records for Early Glaucoma Detection: A Multi-Dimensional Machine Learning Approach.Bioengineering (Basel, Switzerland) · 2024Article
- Paving the way while playing catch up: mitochondrial genetics in African ancestry primary open-angle glaucoma.Frontiers in ophthalmology · 2023Article
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- Epidemiological Characteristics of Inpatients Undergoing Surgery for Glaucoma at Tianjin Eye Hospital from 2013 to 2017.Journal of ophthalmology · 2021Article
- cAMP/PKA pathway and mitochondrial protection in oxidative stress-induced optic nerve head astrocytes.Neural regeneration research · 2021Article
- Loss of AKAP1 triggers Drp1 dephosphorylation-mediated mitochondrial fission and loss in retinal ganglion cells.Cell death & disease · 2020Article
- Evaluation of a multimedia marketing campaign to engage African American patients in glaucoma screening.Preventive medicine reports · 2020Article
- The association of mitochondrial DNA haplogroups with POAG in African Americans.Experimental eye research · 2019Article
- Mitochondrial haplogroup L1c2 is associated with increased disease severity in African American patients with primary open-angle glaucoma.Journal of clinical & experimental ophthalmology · 2019Article
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Authors and funding
14 authors at 3 institutions in 2 countries.
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Abstract
Purpose: We investigate the function of the V83I polymorphism (m.6150G>A, rs879053914) in the mitochondrial cytochrome c oxidase subunit 1 (MT-CO1) gene and its role in African American (AA) primary open-angle glaucoma (POAG). Methods: This study used Sanger sequencing (1339 cases, 850 controls), phenotypic characterization of Primary Open-Angle African American Glaucoma Genetics study (POAAGG) cases, a masked chart review of CO1 missense cases (V83I plus M117T, n = 29) versus wild type cases (n = 29), a yeast 2-hybrid (Y2H) cDNA library screen, and quantification of protein-protein interactions by Y2H and ELISA. Results: The association of V83I with POAG in AA was highly significant for men (odds ratio [OR] 6.5; 95% confidence interval [CI] 2.0-21.3, P = 0.0001), but not for women (OR 1.1; 95% CI, 0.62-2.00, P = 0.78). POAG cases having CO1 double missense mutation (V83I + M117T, L1c2 haplogroup) had a higher cup-to-disc ratio (0.77 vs. 0.71, P = 0.04) and significantly worse visual function (average pattern standard deviation, 6.5 vs. 4.3, P = 0.009; average mean deviation -10.4 vs. -4.5, P = 0.006) when compared to matched wild type cases (L1b haplogroup). Interaction of the V83I region of CO1 with amyloid beta peptide (Aβ) was confirmed by ELISA assay, and this interaction was abrogated by V83I. A Y2H screen of an adult human brain cDNA library with the V83 region of CO1 as bait retrieved the UBQLN1 gene. Conclusions: The V83I polymorphism was associated strongly with POAG in AA men and disrupts Aβ-binding to CO1. This region also interacts with a neuroprotective protein, UBQLN1.
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