SynthesisPLoS genetics2010
A genome-wide association study of optic disc parameters.
Synthesis in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 9 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
112 citing papers in PubMed, 9 syntheses or guidelines pooled it, 220 citations in OpenAlex.
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- Genetic association between CDKN2B/CDKN2B-AS1 gene polymorphisms with primary glaucoma in a North Indian cohort: an original study and an updated meta-analysis.BMC medical genomics · 2021Pooled it
- Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease.Arteriosclerosis, thrombosis, and vascular biology · 2019Pooled it
- New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.Human molecular genetics · 2017Pooled it
- Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.Genetic epidemiology · 2015Pooled it
- Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.Nature communications · 2014Pooled it
- Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.Nature genetics · 2013Pooled it
- Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.PLoS genetics · 2012Pooled it
- Common genetic determinants of intraocular pressure and primary open-angle glaucoma.PLoS genetics · 2012Pooled it
- The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables.Journal of glaucoma · 2013Trial
- Genetic associations of variants in 10 glaucoma-related genes with POAG risk and structural phenotypes in Korean subjects.Medicine · 2026Article
- Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses.medRxiv : the preprint server for health sciences · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.Research square · 2026Article
- Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery.medRxiv : the preprint server for health sciences · 2025Article
- Genomic structural equation Modeling analysis of glaucoma Endophenotypes: investigating genetic architecture and non-intraocular pressure mechanisms.Human molecular genetics · 2025Article
- The role of SIX6 gene in juvenile open-angle glaucoma: a subtle contributor to the mutational landscape.Japanese journal of ophthalmology · 2025Article
- Optic disc characteristics on digital fundus photographs in Saudi children.Neurosciences (Riyadh, Saudi Arabia) · 2024Article
- SH-SY5Y human neuronal cells with mutations of theBiochemistry and biophysics reports · 2024Article
- Case series: Megalopapillae in twins - Congenital or hereditary?Indian journal of ophthalmology · 2022Article
- Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma.Cell genomics · 2022Article
52 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The optic nerve head is involved in many ophthalmic disorders, including common diseases such as myopia and open-angle glaucoma. Two of the most important parameters are the size of the optic disc area and the vertical cup-disc ratio (VCDR). Both are highly heritable but genetically largely undetermined. We performed a meta-analysis of genome-wide association (GWA) data to identify genetic variants associated with optic disc area and VCDR. The gene discovery included 7,360 unrelated individuals from the population-based Rotterdam Study I and Rotterdam Study II cohorts. These cohorts revealed two genome-wide significant loci for optic disc area, rs1192415 on chromosome 1p22 (p = 6.72x10(-19)) within 117 kb of the CDC7 gene and rs1900004 on chromosome 10q21.3-q22.1 (p = 2.67x10(-33)) within 10 kb of the ATOH7 gene. They revealed two genome-wide significant loci for VCDR, rs1063192 on chromosome 9p21 (p = 6.15x10(-11)) in the CDKN2B gene and rs10483727 on chromosome 14q22.3-q23 (p = 2.93x10(-10)) within 40 kbp of the SIX1 gene. Findings were replicated in two independent Dutch cohorts (Rotterdam Study III and Erasmus Rucphen Family study; N = 3,612), and the TwinsUK cohort (N = 843). Meta-analysis with the replication cohorts confirmed the four loci and revealed a third locus at 16q12.1 associated with optic disc area, and four other loci at 11q13, 13q13, 17q23 (borderline significant), and 22q12.1 for VCDR. ATOH7 was also associated with VCDR independent of optic disc area. Three of the loci were marginally associated with open-angle glaucoma. The protein pathways in which the loci of optic disc area are involved overlap with those identified for VCDR, suggesting a common genetic origin.
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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.