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Int. J. Mol. Sci. 2015, 16(12), 28886-28911; doi:10.3390/ijms161226135

An Updated Review on the Genetics of Primary Open Angle Glaucoma

1
Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh 11424, Saudi Arabia
2
Department of Ophthalmology, University of Florida College of Medicine, 580, W, 8th Street, Tower-2, Jacksonville, FL 32209, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Emil Alexov
Received: 27 October 2015 / Revised: 19 November 2015 / Accepted: 27 November 2015 / Published: 4 December 2015
(This article belongs to the Collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
View Full-Text   |   Download PDF [267 KB, uploaded 4 December 2015]

Abstract

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. View Full-Text
Keywords: epidemiology; genetics; GWAS; POAG; quantitative traits; SNP genotyping epidemiology; genetics; GWAS; POAG; quantitative traits; SNP genotyping
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Abu-Amero, K.; Kondkar, A.A.; Chalam, K.V. An Updated Review on the Genetics of Primary Open Angle Glaucoma. Int. J. Mol. Sci. 2015, 16, 28886-28911.

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