ArticleClinical genetics2013
Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- A Comprehensive Assessment of the Shared Genetic Architecture between Myopia and Open-Angle Glaucoma.Ophthalmology science · 2026Article
- Primary Open-Angle Glaucoma among Black and Latinx Populations: Exploring Racial Disparities in the United States.Journal of racial and ethnic health disparities · 2026Review
- Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Identification of key genes in periodontitis.Frontiers in genetics · 2025Article
- Potential Functions and Causal Associations of GNLY in Primary Open-Angle Glaucoma: Integration of Blood-Derived Proteome, Transcriptome, and Experimental Verification.Journal of inflammation research · 2025Article
- Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue.Antioxidants (Basel, Switzerland) · 2020Review
- Collagen XV, a multifaceted multiplexin present across tissues and species.Matrix biology plus · 2020Article
- Basement membrane collagens and disease mechanisms.Essays in biochemistry · 2019Review
- Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies.Molecular vision · 2019Article
- Characterizing the "POAGome": A bioinformatics-driven approach to primary open-angle glaucoma.Progress in retinal and eye research · 2017Review
- A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle.BMC genetics · 2017Article
- Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.Orphanet journal of rare diseases · 2016Article
- Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Cold Spring Harbor perspectives in medicine · 2015Review
- Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma.Experimental eye research · 2015Review
- Glaucoma Genes and Mechanisms.Progress in molecular biology and translational science · 2015Review
- Article
- Common and rare genetic risk factors for glaucoma.Cold Spring Harbor perspectives in medicine · 2014Review
- Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.Molecular vision · 2014Article
- Developments in Ocular Genetics: 2013 Annual Review.Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
Abstract
Primary open angle glaucoma (POAG) is a genetically and phenotypically complex disease that is a leading cause of blindness worldwide. Previously we completed a genome-wide scan for early-onset POAG that identified a locus on 9q22 (GLC1J). To identify potential causative variants underlying GLC1J, we used targeted DNA capture followed by high throughput sequencing of individuals from four GLC1J pedigrees, followed by Sanger sequencing to screen candidate variants in additional pedigrees. A mutation likely to cause early-onset glaucoma was not identified, however COL15A1 variants were found in the youngest affected members of 7 of 15 pedigrees with variable disease onset. In addition, the most common COL15A1 variant, R163H, influenced the age of onset in adult POAG cases. RNA in situ hybridization of mouse eyes shows that Col15a1 is expressed in the multiple ocular structures including ciliary body, astrocytes of the optic nerve and cells in the ganglion cell layer. Sanger sequencing of COL18A1, a related multiplexin collagen, identified a rare variant, A1381T, in members of three additional pedigrees with early-onset disease. These results suggest genetic variation in COL15A1 and COL18A1 can modify the age of onset of both early and late onset POAG.
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Registered trials
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.