ArticleOphthalmology2021
Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.
Article in Ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 4 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 4 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Effect of genotype on individual response to the pharmacological treatment of glaucoma: a systematic review and meta-analysis.Biology direct · 2023Pooled it
- Background polygenic risk modulates the association between glaucoma and cardiopulmonary diseases and measures: an analysis from the UK Biobank.The British journal of ophthalmology · 2023Pooled it
- Glaucoma Genetic Risk Scores in the Million Veteran Program.Ophthalmology · 2022Pooled it
- Interaction of background genetic risk, psychotropic medications, and primary angle closure glaucoma in the UK Biobank.PloS one · 2022Pooled it
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.American journal of human genetics · 2026Article
- Polygenic scores as modifiers in Mendelian diseases.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Residential Greenspace and Domestic Gardens, Genetic Predisposition, and Incident Glaucoma: A Prospective Cohort Study.GeoHealth · 2026Article
- Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease.medRxiv : the preprint server for health sciences · 2025Article
- Proteome atlas for mechanistic discovery and risk prediction of diabetic retinopathy.Nature communications · 2025Article
- Progress in Translating Glaucoma Genetics Into the Clinic: A Review.Clinical & experimental ophthalmology · 2025Review
- Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin.bioRxiv : the preprint server for biology · 2025Article
- Does Age Modify the Relation Between Genetic Predisposition to Glaucoma and Various Glaucoma Traits in the UK Biobank?Investigative ophthalmology & visual science · 2025Article
- Emerging strategies targeting genes and cells in glaucoma.Vision research · 2025Review
- Photoreceptor metabolic window unveils eye-body interactions.Nature communications · 2025Article
- Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks.Journal of translational medicine · 2024Article
- Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.JAMA ophthalmology · 2023Article
- Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?American journal of human genetics · 2023Article
- From genetic variation to precision medicine.Cambridge prisms. Precision medicine · 2023Article
- Review
- Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.The Journal of clinical investigation · 2022Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeMYOC (myocilin) mutations account for 3% to 5% of primary open-angle glaucoma (POAG) cases. We aimed to understand the true population-wide penetrance and characteristics of glaucoma among individuals with the most common MYOC variant (p.Gln368Ter) and the impact of a POAG polygenic risk score (PRS) in this population.
designCross-sectional population-based study.
participantsIndividuals with the p.Gln368Ter variant among 77 959 UK Biobank participants with fundus photographs (FPs).
methodsA genome-wide POAG PRS was computed, and 2 masked graders reviewed FPs for disc-defined glaucoma (DDG).
main outcome measuresPenetrance of glaucoma.
resultsTwo hundred individuals carried the p.Gln368Ter heterozygous genotype, and 177 had gradable FPs. One hundred thirty-two showed no evidence of glaucoma, 45 (25.4%) had probable/definite glaucoma in at least 1 eye, and 19 (10.7%) had bilateral glaucoma. No differences were found in age, race/ethnicity, or gender among groups (P > 0.05). Of those with DDG, 31% self-reported or had International Classification of Diseases codes for glaucoma, whereas 69% were undiagnosed. Those with DDG had higher medication-adjusted cornea-corrected intraocular pressure (IOPcc) (P < 0.001) vs. those without glaucoma. This difference in IOPcc was larger in those with DDG with a prior glaucoma diagnosis versus those not diagnosed (P < 0.001). Most p.Gln368Ter carriers showed IOP in the normal range (≤21 mmHg), although this proportion was lower in those with DDG (P < 0.02) and those with prior glaucoma diagnosis (P < 0.03). Prevalence of DDG increased with each decile of POAG PRS. Individuals with DDG demonstrated significantly higher PRS compared with those without glaucoma (0.37 ± 0.97 vs. 0.01 ± 0.90; P = 0.03). Of those with DDG, individuals with a prior diagnosis of glaucoma had higher PRS compared with undiagnosed individuals (1.31 ± 0.64 vs. 0.00 ± 0.81; P < 0.001) and 27.5 times (95% confidence interval, 2.5-306.6) adjusted odds of being in the top decile of PRS for POAG.
conclusionsOne in 4 individuals with the MYOC p.Gln368Ter mutation demonstrated evidence of glaucoma, a substantially higher penetrance than previously estimated, with 69% of cases undetected. A large portion of p.Gln368Ter carriers, including those with DDG, have IOP in the normal range, despite similar age. Polygenic risk score increases disease penetrance and severity, supporting the usefulness of PRS in risk stratification among MYOC p.Gln368Ter carriers.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.