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An Updated Review on the Genetics of Primary Open Angle Glaucoma

Epidemiological studies suggest that by 2020 the prevalence of primary open angle glaucoma (POAG) is estimated to increase to 76.0 million, and to 111.8 million by 2040 globally due to the population aging. The prevalence of POAG is the highest among those of African descent, followed by Asians, and...

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Autores principales: Abu-Amero, Khaled, Kondkar, Altaf A., Chalam, Kakarla V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691082/
https://www.ncbi.nlm.nih.gov/pubmed/26690118
http://dx.doi.org/10.3390/ijms161226135
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author Abu-Amero, Khaled
Kondkar, Altaf A.
Chalam, Kakarla V.
author_facet Abu-Amero, Khaled
Kondkar, Altaf A.
Chalam, Kakarla V.
author_sort Abu-Amero, Khaled
collection PubMed
description Epidemiological studies suggest that by 2020 the prevalence of primary open angle glaucoma (POAG) is estimated to increase to 76.0 million, and to 111.8 million by 2040 globally due to the population aging. The prevalence of POAG is the highest among those of African descent, followed by Asians, and the lowest in Europeans. POAG is a genetically complex trait with a substantial fraction exhibiting a significant heritability. Less than 10% of POAG cases in the general population are caused by specific gene mutations and the remaining cases are polygenic. Quantitative traits related to POAG pathogenesis such as intra-ocular pressure (IOP), vertical cup/disc ratio (VCDR), optic disc area, and central corneal thickness (CCT) are highly heritable, and likely to be influenced at least in part by genes and show substantial variation in human populations. Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) at different loci including CAV1/CAV2, TMCO1, CDKN2B-AS1, CDC7-TGFBR3, SIX1/SIX6, GAS7 and ATOH7 to be associated with POAG and its related quantitative traits (endophenotypes). The chapter provides a brief overview on the different GWAS and SNP association studies and their correlation with various clinical parameters important for POAG in the population worldwide, including the Middle East.
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spelling pubmed-46910822016-01-06 An Updated Review on the Genetics of Primary Open Angle Glaucoma Abu-Amero, Khaled Kondkar, Altaf A. Chalam, Kakarla V. Int J Mol Sci Review Epidemiological studies suggest that by 2020 the prevalence of primary open angle glaucoma (POAG) is estimated to increase to 76.0 million, and to 111.8 million by 2040 globally due to the population aging. The prevalence of POAG is the highest among those of African descent, followed by Asians, and the lowest in Europeans. POAG is a genetically complex trait with a substantial fraction exhibiting a significant heritability. Less than 10% of POAG cases in the general population are caused by specific gene mutations and the remaining cases are polygenic. Quantitative traits related to POAG pathogenesis such as intra-ocular pressure (IOP), vertical cup/disc ratio (VCDR), optic disc area, and central corneal thickness (CCT) are highly heritable, and likely to be influenced at least in part by genes and show substantial variation in human populations. Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) at different loci including CAV1/CAV2, TMCO1, CDKN2B-AS1, CDC7-TGFBR3, SIX1/SIX6, GAS7 and ATOH7 to be associated with POAG and its related quantitative traits (endophenotypes). The chapter provides a brief overview on the different GWAS and SNP association studies and their correlation with various clinical parameters important for POAG in the population worldwide, including the Middle East. MDPI 2015-12-04 /pmc/articles/PMC4691082/ /pubmed/26690118 http://dx.doi.org/10.3390/ijms161226135 Text en © 2015 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons by Attribution (CC-BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Abu-Amero, Khaled
Kondkar, Altaf A.
Chalam, Kakarla V.
An Updated Review on the Genetics of Primary Open Angle Glaucoma
title An Updated Review on the Genetics of Primary Open Angle Glaucoma
title_full An Updated Review on the Genetics of Primary Open Angle Glaucoma
title_fullStr An Updated Review on the Genetics of Primary Open Angle Glaucoma
title_full_unstemmed An Updated Review on the Genetics of Primary Open Angle Glaucoma
title_short An Updated Review on the Genetics of Primary Open Angle Glaucoma
title_sort updated review on the genetics of primary open angle glaucoma
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691082/
https://www.ncbi.nlm.nih.gov/pubmed/26690118
http://dx.doi.org/10.3390/ijms161226135
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