Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment
Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment
Glaucoma is a common, complex, heterogenous disease and it constitutes the major cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG) is the most common type of glaucoma in all populations. Most of the molecular mechanisms leading to POAG development are still unknown. Gene mutations in various populations have been identified by genetic studies and a genetic basis for glaucoma pathogenesis has been established. Linkage analysis and association studies are genetic approaches in the investigation of the genetic basis of POAG. Genome-wide association studies (GWAS) are more powerful compared with linkage analysis in discovering genes of small effect that might contribute to the development of the disease. POAG links to at least 20 genetic loci, but only 2 genes identified in these loci, myocilin and optineurin, are considered as well-established glaucoma-causing genes, whereas the role of other loci, genes, and variants implicated in the development of POAG remains controversial. Gene mutations associated with POAG result in retinal ganglion cell death, which is the common outcome of pathogenetic mechanisms in glaucoma. In future, if the sensitivity and specificity of genotyping increases, it may be possible to screen individuals routinely for disease susceptibility. This review is an update on the latest progress of genetic studies associated with POAG. It emphasizes the correlation of recent achievements in genetics with glaucoma pathophysiology, glaucoma treatment perspectives, and the possibility of future prevention of irreversible visual loss caused by the disease.
355-369
Gemenetzi, M.
7a1e4e8b-4ca4-47d9-8485-32d382141284
Yang, Y
a279150b-c956-4e2a-8916-559dd3291d18
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
March 2012
Gemenetzi, M.
7a1e4e8b-4ca4-47d9-8485-32d382141284
Yang, Y
a279150b-c956-4e2a-8916-559dd3291d18
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Gemenetzi, M., Yang, Y and Lotery, A.J.
(2012)
Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment.
Eye, 26 (3), .
(doi:10.1038/eye.2011.309).
(PMID:22173078)
Abstract
Glaucoma is a common, complex, heterogenous disease and it constitutes the major cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG) is the most common type of glaucoma in all populations. Most of the molecular mechanisms leading to POAG development are still unknown. Gene mutations in various populations have been identified by genetic studies and a genetic basis for glaucoma pathogenesis has been established. Linkage analysis and association studies are genetic approaches in the investigation of the genetic basis of POAG. Genome-wide association studies (GWAS) are more powerful compared with linkage analysis in discovering genes of small effect that might contribute to the development of the disease. POAG links to at least 20 genetic loci, but only 2 genes identified in these loci, myocilin and optineurin, are considered as well-established glaucoma-causing genes, whereas the role of other loci, genes, and variants implicated in the development of POAG remains controversial. Gene mutations associated with POAG result in retinal ganglion cell death, which is the common outcome of pathogenetic mechanisms in glaucoma. In future, if the sensitivity and specificity of genotyping increases, it may be possible to screen individuals routinely for disease susceptibility. This review is an update on the latest progress of genetic studies associated with POAG. It emphasizes the correlation of recent achievements in genetics with glaucoma pathophysiology, glaucoma treatment perspectives, and the possibility of future prevention of irreversible visual loss caused by the disease.
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Published date: March 2012
Organisations:
Clinical & Experimental Sciences
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Local EPrints ID: 338841
URI: http://eprints.soton.ac.uk/id/eprint/338841
ISSN: 0950-222X
PURE UUID: 2b674d32-1d8c-4538-b9b8-6dc9c2ce38b1
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Date deposited: 17 May 2012 11:31
Last modified: 15 Mar 2024 03:15
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Author:
M. Gemenetzi
Author:
Y Yang
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