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Article

Copy number variations and primary open-angle glaucoma.

Investigative ophthalmology & visual science - 1 Jan 2011

Davis Lea K, Meyer Kacie J, Schindler Emily I, Beck John S, Rudd Danielle S, Grundstad A Jason, Scheetz Todd E, Braun Terry A, Fingert John H, Alward Wallace L M, Kwon Young H, Folk James C, Russell Stephen R, Wassink Thomas H, Sheffield Val C, Stone Edwin M

Abstract excerpt

PURPOSE: This 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. METHODS: DNA samples from patients and controls were tested for CNVs using a combination...

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Share to Comparative Genomic Hybridization
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Genome-Wide Association Study

Share to Glaucoma, Open-Angle

Share to Oligonucleotide Array Sequence Analysis

Share to Polymorphism, Single Nucleotide

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

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Identifiers

PMID: 21310917
DOI: 10.1167/iovs.10-5606
PMCID: PMC3207715

Genes

DMXL1
DTWD2
PAX2
RASSF3
TBK1
TULP3
XPOT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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