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Review
. 2015 Dec 4;16(12):28886-911.
doi: 10.3390/ijms161226135.

An Updated Review on the Genetics of Primary Open Angle Glaucoma

Khaled Abu-Amero  1   2 , Altaf A Kondkar  3 , Kakarla V Chalam  4
Affiliations
Review

An Updated Review on the Genetics of Primary Open Angle Glaucoma

Khaled Abu-Amero et al. Int J Mol Sci. .

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.

Keywords: GWAS; POAG; SNP genotyping; epidemiology; genetics; quantitative traits.

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References

    1. Quigley H.A., Broman A.T. The number of people with glaucoma worldwide in 2010 and 2020. Br. J. Ophthalmol. 2006;90:262–267. doi: 10.1136/bjo.2005.081224. - DOI - PMC - PubMed
    1. Kwon Y.H., Fingert J.H., Kuehn M.H., Alward W.L. Primary open-angle glaucoma. N. Engl. J. Med. 2009;360:1113–1124. doi: 10.1056/NEJMra0804630. - DOI - PMC - PubMed
    1. Kang J.H., Loomis S.J., Rosner B.A., Wiggs J.L., Pasquale L.R. Comparison of risk factor profiles for primary open-angle glaucoma subtypes defined by pattern of visual field loss: A prospective study. Investig. Ophthalmol. Vis. Sci. 2015;56:2439–2448. doi: 10.1167/iovs.14-16088. - DOI - PMC - PubMed
    1. Caprioli J., Coleman A.L. Intraocular pressure fluctuation a risk factor for visual field progression at low intraocular pressures in the advanced glaucoma intervention study. Ophthalmology. 2008;115:1123–1129. doi: 10.1016/j.ophtha.2007.10.031. - DOI - PubMed
    1. Gordon M.O., Beiser J.A., Brandt J.D., Heuer D.K., Higginbotham E.J., Johnson C.A., Keltner J.L., Miller J.P., Parrish R.K., 2nd, Wilson M.R., et al. The ocular hypertension treatment study: Baseline factors that predict the onset of primary open-angle glaucoma. Arch. Ophthalmol. 2002;120:714–720. doi: 10.1001/archopht.120.6.714. - DOI - PubMed