ArticleInvestigative ophthalmology & visual science2014
DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects.Irish journal of medical science · 2022Pooled it
- TMCO1 as an Endoplasmic Reticulum Calcium Load-Activated Channel: Mechanisms and Disease Implications.Biomolecules · 2025Review
- Candidate SNP Markers Significantly Altering the Affinity of the TATA-Binding Protein for the Promoters of Human Genes Associated with Primary Open-Angle Glaucoma.International journal of molecular sciences · 2024Article
- Review
- Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants inFrontiers in genetics · 2021Article
- Primary open angle glaucoma genetics: The common variants and their clinical associations (Review).Molecular medicine reports · 2020Review
- Mendelian genes in primary open angle glaucoma.Experimental eye research · 2019Review
- Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.Journal of glaucoma · 2017Article
- Major review: Molecular genetics of primary open-angle glaucoma.Experimental eye research · 2017Review
- The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells.PloS one · 2017Article
- Transgenic TBK1 mice have features of normal tension glaucoma.Human molecular genetics · 2017Article
- Tank-Binding Kinase 1 (Transactions of the American Ophthalmological Society · 2016Article
- miRNA Profile in Three Different Normal Human Ocular Tissues by miRNA-Seq.Investigative ophthalmology & visual science · 2016Article
- SQSTM1 Mutations and Glaucoma.PloS one · 2016Article
- Expression Profiling of Human Schlemm's Canal Endothelial Cells From Eyes With and Without Glaucoma.Investigative ophthalmology & visual science · 2015Article
Corrections and comments
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Authors and funding
33 authors.
Funding
Abstract
purposeWe examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG).
methodsOur study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with the Illumina Human660W_Quad_v1 BeadChip. After removing non-blood-derived and amplified DNA samples, we applied quality control steps based on the mean Log R Ratio and the mean B allele frequency. Subsequently, data from 3057 DNA samples (1599 cases and 1458 controls) were analyzed with PennCNV software. We defined CNVs as those ≥5 kilobases (kb) in size and interrogated by ≥5 consecutive probes. We further limited our investigation to CNVs in known POAG-related genes, including CDKN2B-AS1, TMCO1, SIX1/SIX6, CAV1/CAV2, the LRP12-ZFPM2 region, GAS7, ATOH7, FNDC3B, CYP1B1, MYOC, OPTN, WDR36, SRBD1, TBK1, and GALC.
resultsGenomic duplications of CDKN2B-AS1 and TMCO1 were each found in a single case. Two cases carried duplications in the GAS7 region. Genomic deletions of SIX6 and ATOH7 were each identified in one case. One case carried a TBK1 deletion and another case carried a TBK1 duplication. No controls had duplications or deletions in these six genes. A single control had a duplication in the MYOC region. Deletions of GALC were observed in five cases and two controls.
conclusionsThe CNV analysis of a large set of cases and controls revealed the presence of rare CNVs in known POAG susceptibility genes. Our data suggest that these rare CNVs may contribute to POAG pathogenesis and merit functional evaluation.
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