Journal article
SQSTM1 Mutations and Glaucoma
PloS one, Vol.11(6), pp.e0156001-e0156001
2016
DOI: 10.1371/journal.pone.0156001
PMCID: PMC4898711
PMID: 27275741
Abstract
Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG) occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN) and TANK binding kinase 1 (TBK1), cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase that phosphorylates OPTN, an autophagy receptor, which ultimately activates autophagy. The sequestosome (SQSTM1) gene also encodes an autophagy receptor and also is a target of TBK1 phosphorylation. Consequently, we hypothesized that mutations in SQSTM1 may also cause NTG. We tested this hypothesis by searching for glaucoma-causing mutations in a cohort of NTG patients (n = 308) and matched controls (n = 157) using Sanger sequencing. An additional 1098 population control samples were also analyzed using whole exome sequencing. A total of 17 non-synonymous mutations were detected which were not significantly skewed between cases and controls when analyzed separately, or as a group (p > 0.05). These data suggest that SQSTM1 mutations are not a common cause of NTG.
Details
- Title: Subtitle
- SQSTM1 Mutations and Glaucoma
- Creators
- Todd E Scheetz - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of AmericaBen R Roos - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of AmericaFrances Solivan-Timpe - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of AmericaKathy Miller - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of AmericaAdam P DeLuca - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of AmericaEdwin M Stone - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of AmericaYoung H Kwon - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of AmericaWallace L M Alward - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of AmericaKai Wang - Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, United States of AmericaJohn H Fingert - Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa, United States of America
- Resource Type
- Journal article
- Publication Details
- PloS one, Vol.11(6), pp.e0156001-e0156001
- DOI
- 10.1371/journal.pone.0156001
- PMID
- 27275741
- PMCID
- PMC4898711
- NLM abbreviation
- PLoS One
- ISSN
- 1932-6203
- eISSN
- 1932-6203
- Publisher
- United States
- Grant note
- R01 EY023512 / NEI NIH HHS
- Language
- English
- Date published
- 2016
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Iowa Neuroscience Institute; Biostatistics; Center for Bioinformatics and Computational Biology; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980053902771
Metrics
22 Record Views