Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.

ABSTRACT:

Purpose

To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases.

Design

A retrospective cohort study.

Methods

DNA samples from patients with normal-tension glaucoma and high-tension glaucoma and unaffected controls were screened for TBK1 copy number variations using real-time quantitative polymerase chain reaction. Samples with additional copies of the TBK1 gene were further tested using custom comparative genomic hybridization arrays.

Results

Four out of 334 normal-tension glaucoma cases (1.2%) were found to carry TBK1 copy number variations using quantitative polymerase chain reaction. One extra dose of the TBK1

SUBMITTER: Awadalla MS 

PROVIDER: S-EPMC4355400 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature