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Genetic Insights into Primary Open-Angle Glaucoma

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Intraocular and Intracranial Pressure Gradient in Glaucoma

Part of the book series: Advances in Visual Science and Eye Diseases ((AVSED,volume 1))

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Abstract

Primary open-angle glaucoma (POAG) is a public cause problem with a projected prevalence of 110 million patients overall by 2040; 40 million of these cases will come from Asia [1]. Therefore a deeper understanding of this disease is an urgent challenge as treatments that address the root cause of POAG are needed. POAG is a seemingly enigmatic disease. The intraocular pressure (IOP) may or may not be elevated. If IOP is elevated, anterior segment examination does not reveal clues as to why this is the case. The optic nerve is excavated and pale, and there is attendant VF loss (Fig. 44.1). Genomics offers an incredible opportunity to gain insights into this IOP-related otherwise idiopathic optic neuropathy.

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References

  1. Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014;121(11):2081–90.

    Article  Google Scholar 

  2. Teikari JM. Genetic factors in open-angle (simple and capsular) glaucoma. A population-based twin study. Acta Ophthalmol (Copenh). 1987;65(6):715–20.

    Article  CAS  Google Scholar 

  3. Bailey JN, Loomis SJ, Kang JH, et al. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 2016;48(2):189–94.

    Article  Google Scholar 

  4. Springelkamp H, Mishra A, Hysi PG, et al. Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology. Genet Epidemiol. 2015;39(3):207–16.

    Article  Google Scholar 

  5. Springelkamp H, Hohn R, Mishra A, et al. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014;5:4883.

    Article  CAS  Google Scholar 

  6. Hysi PG, Cheng CY, Springelkamp H, et al. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet. 2014;46(10):1126–30.

    Article  CAS  Google Scholar 

  7. Lu Y, Vitart V, Burdon KP, NEIGHBOR consortium. GWAS on central corneal thickness identifies a total of 27 associated loci, including six risk loci for keratoconus. Nat Genet. 2012;45(2):155–63.

    Article  Google Scholar 

  8. Pasquale LR, Loomis SJ, Kang JH, et al. CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol. 2013;155(2):342–53. e345

    Article  CAS  Google Scholar 

  9. Burdon KP, Crawford A, Casson RJ, et al. Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma. Ophthalmology. 2012;119(8):1539–45.

    Article  Google Scholar 

  10. Gao S, Jakobs TC. Mice homozygous for a deletion in the glaucoma susceptibility locus INK4 show increased vulnerability of retinal ganglion cells to elevated intraocular pressure. Am J Pathol. 2016;186(4):985–1005.

    Article  CAS  Google Scholar 

  11. Altshuler DM, Gibbs RA, Peltonen L, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 2010;467(7311):52–8.

    Article  CAS  Google Scholar 

  12. Pasmant E, Sabbagh A, Vidaud M, Bieche I. ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS. FASEB J. 2011;25(2):444–8.

    Article  CAS  Google Scholar 

  13. Iglesias AI, Springelkamp H, Ramdas WD, Klaver CC, Willemsen R, van Duijn CM. Genes, pathways, and animal models in primary open-angle glaucoma. Eye (Lond). 2015;29(10):1285–98.

    Article  CAS  Google Scholar 

  14. Kang JH, Loomis SJ, Yaspan BL, et al. Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma. Eye (Lond). 2014;28(6):662–71.

    Article  CAS  Google Scholar 

  15. Buys ES, Ko YC, Alt C, et al. Soluble guanylate cyclase alpha1-deficient mice: a novel murine model for primary open angle glaucoma. PLoS One. 2013;8(3):e60156.

    Article  CAS  Google Scholar 

  16. Thorleifsson G, Walters GB, Hewitt AW, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet. 2010;42(10):906–9.

    Article  CAS  Google Scholar 

  17. Wiggs JL, Hee Kang J, Yaspan BL, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet. 2011;20(23):4707–13.

    Article  CAS  Google Scholar 

  18. Ren R, Li G, Le TD, Kopczynski C, Stamer WD, Gong H. Netarsudil increases outflow facility in human eyes through multiple mechanisms. Invest Ophthalmol Vis Sci. 2016;57(14):6197–209.

    Article  CAS  Google Scholar 

  19. Kaufman PL. Latanoprostene bunod ophthalmic solution 0.024% for IOP lowering in glaucoma and ocular hypertension. Expert Opin Pharmacother. 2017;18(4):433–44.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Louis R. Pasquale

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  1. Louis R. Pasquale
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Correspondence to Louis R. Pasquale .

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Editors and Affiliations

  1. Beijing Tongren Hospital, Capital Medical University, Beijing, China

    Ningli Wang

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Pasquale, L.R. (2019). Genetic Insights into Primary Open-Angle Glaucoma. In: Wang, N. (eds) Intraocular and Intracranial Pressure Gradient in Glaucoma. Advances in Visual Science and Eye Diseases, vol 1. Springer, Singapore. https://doi.org/10.1007/978-981-13-2137-5_44

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  • DOI: https://doi.org/10.1007/978-981-13-2137-5_44

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-13-2136-8

  • Online ISBN: 978-981-13-2137-5

  • eBook Packages: MedicineMedicine (R0)

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