ArticleInvestigative ophthalmology & visual science2011
Copy number variations and primary open-angle glaucoma.
Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
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- Mitochondrial Genome Study Identifies Association Between Primary Open-Angle Glaucoma and Variants inFrontiers in genetics · 2021Article
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- Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.Molecular vision · 2020Article
- Biogenesis and functions of aminocarboxypropyluridine in tRNA.Nature communications · 2019Article
- Autophagy and Age-Related Eye Diseases.BioMed research international · 2019Review
- Research progress on human genes involved in the pathogenesis of glaucoma (Review).Molecular medicine reports · 2018Review
- Major review: Molecular genetics of primary open-angle glaucoma.Experimental eye research · 2017Review
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- DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.Investigative ophthalmology & visual science · 2014Article
- Copy number variation in bronchopulmonary dysplasia.American journal of medical genetics. Part A · 2014Article
- Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.Investigative ophthalmology & visual science · 2014Article
- Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.Investigative ophthalmology & visual science · 2013Article
- Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.Investigative ophthalmology & visual science · 2013Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
purposeThis study sought to investigate the role of rare copy number variation (CNV) in age-related disorders of blindness, with a focus on primary open-angle glaucoma (POAG). Data are reported from a whole-genome copy number screen in a large cohort of 400 individuals with POAG and 500 age-matched glaucoma-free subjects.
methodsDNA samples from patients and controls were tested for CNVs using a combination of two microarray platforms. The signal intensity data generated from these arrays were then analyzed with multiple CNV detection programs including CNAG version 2.0, PennCNV, and dChip.
resultsA total of 11 validated CNVs were identified as recurrent in the POAG set and absent in the age-matched control set. This set included CNVs on 5q23.1 (DMXL1, DTWD2), 20p12 (PAK7), 12q14 (C12orf56, XPOT, TBK1, and RASSF3), 12p13.33 (TULP3), and 10q34.21 (PAX2), among others. The CNVs presented here are exceedingly rare and are not found in the Database of Genomic Variants. Moreover, expression data from ocular tissue support the role of these CNV-implicated genes in vision-related processes. In addition, CNV locations of DMXL1 and PAK7 overlap previously identified linkage signals for glaucoma on 5p23.1 and 20p12, respectively.
conclusionsThe data are consistent with the hypothesis that rare CNV plays a role in the development of POAG.
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