ArticleMolecular genetics & genomic medicine2016
Rare variants in optic disc area gene
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed, 17 citations in OpenAlex.
- MYC is in the CARDs: CBM complexes coordinate immune and MYC-dependent cellular function.Frontiers in molecular medicine · 2025Article
- Article
- Mechanobiological responses of astrocytes in optic nerve head due to biaxial stretch.BMC ophthalmology · 2022Article
- Article
- CARMA3: A potential therapeutic target in non-cancer diseases.Frontiers in immunology · 2022Review
- Genome-Wide Polygenic Risk Score for Predicting High Risk Glaucoma Individuals of Han Chinese Ancestry.Journal of personalized medicine · 2021Article
- Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.Molecular vision · 2020Article
- CARD-BCL-10-MALT1 signalling in protective and pathological immunity.Nature reviews. Immunology · 2019Review
- Research progress on human genes involved in the pathogenesis of glaucoma (Review).Molecular medicine reports · 2018Review
- A Genome-Wide Scan for MicroRNA-Related Genetic Variants Associated With Primary Open-Angle Glaucoma.Investigative ophthalmology & visual science · 2017Article
Corrections and comments
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Authors and funding
18 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG.
methodsParticipants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis. Myocilin mutation carriers were excluded using direct sequencing. Whole exome sequencing was performed on 187 glaucoma cases and 103 local screened nonglaucoma controls then joint-called with exomes of 993 previously sequenced Australian controls. GWAS-associated genes were assessed for enrichment of rare predicted pathogenic variants in POAG. Significantly enriched genes were compared against Exome Aggregation Consortium (ExAC) public control.
resultsEighty-six GWAS disease or trait-associated glaucoma genes were captured and sequenced.
conclusionWe report here an enrichment of rare predicted pathogenic coding variants within a GWAS-associated locus in 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.