ArticlePloS one2017
Additive effects of genetic variants associated with intraocular pressure in primary open-angle glaucoma.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Genetic Architecture of Trans-Laminar Cribrosa Pressure Difference and Primary Open-Angle Glaucoma.Investigative ophthalmology & visual science · 2026Article
- Investigating therapeutic response to netarsudil in glaucoma subjects with theFrontiers in pharmacology · 2026Article
- Pyruvate and related energetic metabolites modulate resilience against high genetic risk for glaucoma.eLife · 2025Article
- Pyruvate and Related Energetic Metabolites Modulate Resilience Against High Genetic Risk for Glaucoma.bioRxiv : the preprint server for biology · 2025Article
- Towards modifying the genetic predisposition for glaucoma: An overview of the contribution and interaction of genetic and environmental factors.Molecular aspects of medicine · 2023Review
- Genetic variants associated with glaucomatous visual field loss in primary open-angle glaucoma.Scientific reports · 2022Article
- Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology.Translational vision science & technology · 2021Article
- Review
- Association between Polygenic Risk Score and One-Year Outcomes Following As-Needed Aflibercept Therapy for Exudative Age-Related Macular Degeneration.Pharmaceuticals (Basel, Switzerland) · 2020Article
- Polygenic Risk Score Is Associated With Intraocular Pressure and Improves Glaucoma Prediction in the UK Biobank Cohort.Translational vision science & technology · 2019Article
- Lack of Association between Variant rs7916697 inGenetics research international · 2018Article
- A Multi-Locus Genetic Risk Score for Primary Open-Angle Glaucoma (POAG) Variants Is Associated with POAG Risk in a Mediterranean Population: Inverse Correlations with Plasma Vitamin C and E Concentrations.International journal of molecular sciences · 2017Article
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate the association between the additive effects of genetic variants associated with intraocular pressure (IOP) and IOP, vertical cup-to-disc ratio (VCDR), and high tension glaucoma (HTG) or normal tension glaucoma (NTG) as phenotypic features of primary open-angle glaucoma (POAG), and to evaluate the clinical usefulness of the additive effects of IOP-related genetic variants for predicting IOP elevation, Japanese patients with HTG (n = 255) and NTG (n = 261) and 246 control subjects were genotyped for nine IOP-related genetic variants near CAV2, GAS7, GLCCI1/ICA1, ABCA1, ARHGEF12, FAM125B, FNDC3B, ABO, and PTPRJ/AGBL2. The total number of risk alleles of these genetic variants was calculated for each participant as a genetic risk score (GRS), and the association between the GRS and the maximum IOP, mean VCDR, and phenotype (HTG or NTG) of POAG was evaluated. As the GRS increased, the maximum IOP (P = 0.012) and VCDR (P = 0.010) significantly increased. The GRS (9.1±1.9) in patients with HTG was significantly higher (P = 0.011) than that (8.7±1.8) in control subjects. The patients with GRS≥12 as a cut-off value had a 2.54 times higher (P = 0.0085) risk on HTG (maximum IOP≥22mmHg) compared with all patients. The IOP-related GRS approach substantiated that the IOP and VCDR were increased by the additive effects of IOP-related genetic variants in POAG. The high IOP-related GRS in patients with HTG but not NTG shows that there are differences in the genetic background between HTG and NTG and supports the notion that the phenotype (HTG or NTG) in patients with POAG depends on the additive effects of IOP-related genetic variants. The above-mentioned cut-off value of IOP-related GRS may be clinically useful for predicting the risk of IOP elevation.
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