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Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh 11424, Saudi Arabia


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

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

Autor: Khaled Abu-Amero 1,2, Altaf A. Kondkar 1 and Kakarla V. Chalam 2,*



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