Literature DB >> 35037362

The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.

Inas F Aboobakar1, Janey L Wiggs1.   

Abstract

Glaucoma refers to a heterogenous group of disorders characterised by progressive loss of retinal ganglion cells and associated visual field loss. Both early-onset and adult-onset forms of the disease have a strong genetic component. Here, we summarise the known genetic associations for various forms of glaucoma and the possible functional roles for these genes in disease pathogenesis. We also discuss efforts to translate genetic knowledge into clinical practice, including gene-based tests for disease diagnosis and risk-stratification as well as gene-based therapies.
© 2022 Royal Australian and New Zealand College of Ophthalmologists.

Entities:  

Keywords:  GWAS; congenital glaucoma; gene-based therapy; genetic testing; polygenic risk score (PRS)

Mesh:

Year:  2022        PMID: 35037362      PMCID: PMC9185665          DOI: 10.1111/ceo.14035

Source DB:  PubMed          Journal:  Clin Exp Ophthalmol        ISSN: 1442-6404            Impact factor:   4.383


  134 in total

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Authors:  Janey L Wiggs
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3.  Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

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4.  Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

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Journal:  Am J Hum Genet       Date:  2016-04-21       Impact factor: 11.025

Review 5.  LOXL1 folding in exfoliation glaucoma.

Authors:  Audrey M Bernstein; Robert Ritch; J Mario Wolosin
Journal:  Adv Protein Chem Struct Biol       Date:  2019-10-21       Impact factor: 3.507

6.  Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci for Estimating Angle Closure Disease Severity.

Authors:  Chang Liu; Monisha E Nongpiur; Ching-Yu Cheng; Chiea-Chuen Khor; Marco Yu; Rahat Husain; Ching Lin Ho; Tina T Wong; Pui Yi Boey; Shamira Perera; Tien Yin Wong; Eranga N Vithana; Tin Aung
Journal:  Ophthalmology       Date:  2020-07-16       Impact factor: 12.079

7.  Generation of conditional alleles for Foxc1 and Foxc2 in mice.

Authors:  Amy Sasman; Carey Nassano-Miller; Kyoo Seok Shim; Hyun Young Koo; Ting Liu; Kathryn M Schultz; Meredith Millay; Atsushi Nanano; Myengmo Kang; Takashi Suzuki; Tsutomu Kume
Journal:  Genesis       Date:  2012-05-14       Impact factor: 2.487

8.  Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.

Authors:  E V Semina; R Reiter; N J Leysens; W L Alward; K W Small; N A Datson; J Siegel-Bartelt; D Bierke-Nelson; P Bitoun; B U Zabel; J C Carey; J C Murray
Journal:  Nat Genet       Date:  1996-12       Impact factor: 38.330

9.  A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region.

Authors:  A N Akarsu; M E Turacli; S G Aktan; M Barsoum-Homsy; L Chevrette; B S Sayli; M Sarfarazi
Journal:  Hum Mol Genet       Date:  1996-08       Impact factor: 6.150

10.  Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Authors:  Jessica N Cooke Bailey; Stephanie J Loomis; Jae H Kang; R Rand Allingham; Puya Gharahkhani; Chiea Chuen Khor; Kathryn P Burdon; Hugues Aschard; Daniel I Chasman; Robert P Igo; Pirro G Hysi; Craig A Glastonbury; Allison Ashley-Koch; Murray Brilliant; Andrew A Brown; Donald L Budenz; Alfonso Buil; Ching-Yu Cheng; Hyon Choi; William G Christen; Gary Curhan; Immaculata De Vivo; John H Fingert; Paul J Foster; Charles Fuchs; Douglas Gaasterland; Terry Gaasterland; Alex W Hewitt; Frank Hu; David J Hunter; Anthony P Khawaja; Richard K Lee; Zheng Li; Paul R Lichter; David A Mackey; Peter McGuffin; Paul Mitchell; Sayoko E Moroi; Shamira A Perera; Keating W Pepper; Qibin Qi; Tony Realini; Julia E Richards; Paul M Ridker; Eric Rimm; Robert Ritch; Marylyn Ritchie; Joel S Schuman; William K Scott; Kuldev Singh; Arthur J Sit; Yeunjoo E Song; Rulla M Tamimi; Fotis Topouzis; Ananth C Viswanathan; Shefali Setia Verma; Douglas Vollrath; Jie Jin Wang; Nicole Weisschuh; Bernd Wissinger; Gadi Wollstein; Tien Y Wong; Brian L Yaspan; Donald J Zack; Kang Zhang; Epic-Norfolk Eye Study; Robert N Weinreb; Margaret A Pericak-Vance; Kerrin Small; Christopher J Hammond; Tin Aung; Yutao Liu; Eranga N Vithana; Stuart MacGregor; Jamie E Craig; Peter Kraft; Gareth Howell; Michael A Hauser; Louis R Pasquale; Jonathan L Haines; Janey L Wiggs
Journal:  Nat Genet       Date:  2016-01-11       Impact factor: 38.330

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  1 in total

Review 1.  From Bench to Bed: The Current Genome Editing Therapies for Glaucoma.

Authors:  Meihui He; Rong Rong; Dan Ji; Xiaobo Xia
Journal:  Front Cell Dev Biol       Date:  2022-05-16
  1 in total

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