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Genetics Of Glaucoma

J. Wiggs, L. Pasquale
Published 2017 · Biology, Medicine

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Genetic and genomic studies, including genome-wide association studies (GWAS) have accelerated the discovery of genes contributing to glaucoma, the leading cause of irreversible blindness world-wide. Glaucoma can occur at all ages, with Mendelian inheritance typical for the rare early onset disease (before age 40) and complex inheritance evident in common adult-onset forms of disease. Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular events caused by MYOC, OPTN and TBK1 mutations. Diagnostic genetic tests using early-onset glaucoma genes are also proving useful for pre-symptomatic disease detection and genetic counseling. Recent GWAS completed for three types of common adult-onset glaucoma have identified novel loci for POAG (primary-open-angle glaucoma) (ABCA1, AFAP1, GMDS, PMM2, TGFBR3, FNDC3B, ARHGEF12, GAS7, FOXC1, ATXN2, TXNRD2); PACG (primary angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A). In total sixteen genomic regions have been associated with POAG (including the normal tension glaucoma (NTG) subgroup), 8 with PACG and 2 with XFS. These studies are defining important biological pathways and processes that contribute to disease pathogenesis.
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10.1111/ceo.13336
Neuroprotection in glaucoma: recent advances and clinical translation
Chelsea Guymer (2019)
Primary open-angle glaucoma: on the development of novel therapeutic approaches
Darragh E. Crosbie (2018)
10.31393/bba33-2018-2
Effect of TXNRD2 rs35934224, FOXC1 rs2745599 and rs984253 genetic polymorphisms combinations on the development of primary open-angle glaucoma and their degree of association with the disease
N. V. Malachkova (2018)
10.1016/j.ajo.2019.02.001
The Genetic Influence on Corticosteroid-Induced Ocular Hypertension: A Field Positioned for Discovery.
Weilin Chan (2019)
10.2210/PDB6E7O/PDB
Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters.
Yong Wei (2019)
10.1001/jamaophthalmol.2019.4663
Eye Care Trends in Young Adults.
Abhimanyu S Ahuja (2019)
Reverse engineering glaucoma
Karen Leah Lester (2018)
Resource Molecular Classification and Comparative Taxonomics of Foveal and Peripheral Cells in Primate Retina Graphical
Yi-Rong Peng (2019)
10.1016/j.pneurobio.2020.101817
Glaucoma as a Neurodegenerative Disease Caused by Intrinsic Vulnerability Factors
Ana Artero-Castro (2020)
10.1016/J.MRREV.2019.01.001
Glaucomagenesis following ionizing radiation exposure.
N. Hamada (2019)
10.1167/iovs.18-26275
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Congcong Guo (2019)
10.1001/jamaophthalmol.2019.3109
Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.
Bao Jian Fan (2019)
10.1016/j.exer.2019.107795
Update on the genetics of primary open-angle glaucoma.
Hannah Youngblood (2019)
10.1016/j.exer.2017.12.013
Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse
Felix L. Struebing (2018)
10.1097/ICU.0000000000000564
Precision medicine to prevent glaucoma-related blindness
S. Moroi (2019)
10.1038/s41467-018-07692-y
Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities
Tayaza Fadason (2018)
10.1016/j.preteyeres.2019.06.003
Cholinergic nervous system and glaucoma: From basic science to clinical applications
M. Faiq (2019)
10.1016/j.survophthal.2019.06.002
Heritability of glaucoma and glaucoma-related endophenotypes: Systematic review and meta-analysis.
Nigus Gebremedhin Asefa (2019)
10.3390/ijms18112302
A Multi-Locus Genetic Risk Score for Primary Open-Angle Glaucoma (POAG) Variants Is Associated with POAG Risk in a Mediterranean Population: Inverse Correlations with Plasma Vitamin C and E Concentrations
Vicente Zanón-Moreno (2017)
10.1523/JNEUROSCI.0102-20.2020
Mouse γ-Synuclein Promoter-Mediated Gene Expression and Editing in Mammalian Retinal Ganglion Cells
Qizhao Wang (2020)
Pectinate ligament dysplasia and primary glaucoma in dogs : investigating prevalence and identifying genetic risk factors
J. A. C. Oliver (2019)
10.1038/s41588-018-0126-8
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma
A. Khawaja (2018)
10.1016/j.ajo.2020.01.017
Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree.
Tyler S. Quist (2020)
10.1074/jbc.RA119.009419
Stable calcium-free myocilin olfactomedin domain variants reveal challenges in differentiating between benign and glaucoma-causing mutations
S. Hill (2019)
10.1016/j.ophtha.2018.10.031
Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III.
K. Taylor (2019)
10.1016/j.celrep.2019.12.082
Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration.
Luz D. Orozco (2020)
10.1073/pnas.2001250117
Cell atlas of aqueous humor outflow pathways in eyes of humans and four model species provides insight into glaucoma pathogenesis
Tavé van Zyl (2020)
10.4324/9781315716510-16
Glaucoma: The silent thief of sight
Davide Consoli (2015)
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