Literature DB >> 28499933

Major review: Molecular genetics of primary open-angle glaucoma.

Yutao Liu1, R Rand Allingham2.   

Abstract

Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), the most common type, is a complex inherited disorder that is characterized by progressive retinal ganglion cell death, optic nerve head excavation, and visual field loss. The discovery of a large, and growing, number of genetic and chromosomal loci has been shown to contribute to POAG risk, which carry implications for disease pathogenesis. Differential gene expression analyses in glaucoma-affected tissues as well as animal models of POAG are enhancing our mechanistic understanding in this common, blinding disorder. In this review we summarize recent developments in POAG genetics and molecular genetics research.
Copyright © 2017 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Association; Differential expression; Endophenotype; GWAS; Genetics; Glaucoma; Linkage; POAG

Mesh:

Year:  2017        PMID: 28499933      PMCID: PMC5557663          DOI: 10.1016/j.exer.2017.05.002

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN: 0014-4835            Impact factor:   3.467


  407 in total

1.  The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness.

Authors:  Jac Charlesworth; Patricia L Kramer; Tom Dyer; Victor Diego; John R Samples; Jamie E Craig; David A Mackey; Alex W Hewitt; John Blangero; Mary K Wirtz
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-17       Impact factor: 4.799

2.  Identification and characterization of proliferative retinopathy-related long noncoding RNAs.

Authors:  Rong-Mei Zhou; Xiao-Qun Wang; Jin Yao; Yi Shen; Sai-Nan Chen; Hong Yang; Qin Jiang; Biao Yan
Journal:  Biochem Biophys Res Commun       Date:  2015-08-01       Impact factor: 3.575

3.  Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.

Authors:  Henriët Springelkamp; Aniket Mishra; Pirro G Hysi; Puya Gharahkhani; René Höhn; Chiea-Chuen Khor; Jessica N Cooke Bailey; Xiaoyan Luo; Wishal D Ramdas; Eranga Vithana; Victor Koh; Seyhan Yazar; Liang Xu; Hannah Forward; Lisa S Kearns; Najaf Amin; Adriana I Iglesias; Kar-Seng Sim; Elisabeth M van Leeuwen; Ayse Demirkan; Sven van der Lee; Seng-Chee Loon; Fernando Rivadeneira; Abhishek Nag; Paul G Sanfilippo; Arne Schillert; Paulus T V M de Jong; Ben A Oostra; André G Uitterlinden; Albert Hofman; Tiger Zhou; Kathryn P Burdon; Timothy D Spector; Karl J Lackner; Seang-Mei Saw; Johannes R Vingerling; Yik-Ying Teo; Louis R Pasquale; Roger C W Wolfs; Hans G Lemij; E-Shyong Tai; Jost B Jonas; Ching-Yu Cheng; Tin Aung; Nomdo M Jansonius; Caroline C W Klaver; Jamie E Craig; Terri L Young; Jonathan L Haines; Stuart MacGregor; David A Mackey; Norbert Pfeiffer; Tien-Yin Wong; Janey L Wiggs; Alex W Hewitt; Cornelia M van Duijn; Christopher J Hammond
Journal:  Genet Epidemiol       Date:  2015-01-28       Impact factor: 2.135

4.  Multiplex cytokine analysis reveals elevated concentration of interleukin-8 in glaucomatous aqueous humor.

Authors:  John Kuchtey; Kasra A Rezaei; Pimkwan Jaru-Ampornpan; Paul Sternberg; Rachel W Kuchtey
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-06-30       Impact factor: 4.799

5.  Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.

Authors:  E Souzeau; J Glading; B Ridge; D Wechsler; M Chehade; A Dubowsky; K P Burdon; J E Craig
Journal:  Clin Genet       Date:  2015-01-28       Impact factor: 4.438

6.  Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Authors:  John H Fingert; Alan L Robin; Jennifer L Stone; Ben R Roos; Lea K Davis; Todd E Scheetz; Steve R Bennett; Thomas H Wassink; Young H Kwon; Wallace L M Alward; Robert F Mullins; Val C Sheffield; Edwin M Stone
Journal:  Hum Mol Genet       Date:  2011-03-29       Impact factor: 6.150

7.  New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.

Authors:  Veronique Vitart; Goran Bencić; Caroline Hayward; Jelena Skunca Herman; Jennifer Huffman; Susan Campbell; Kajo Bućan; Pau Navarro; Grgo Gunjaca; Josipa Marin; Lina Zgaga; Ivana Kolcić; Ozren Polasek; Mirna Kirin; Nicholas D Hastie; James F Wilson; Igor Rudan; Harry Campbell; Zoran Vatavuk; Brian Fleck; Alan Wright
Journal:  Hum Mol Genet       Date:  2010-08-18       Impact factor: 6.150

8.  Type 2 diabetes mellitus and the risk of open-angle glaucoma the Los Angeles Latino Eye Study.

Authors:  Vikas Chopra; Rohit Varma; Brian A Francis; Joanne Wu; Mina Torres; Stanley P Azen
Journal:  Ophthalmology       Date:  2007-08-22       Impact factor: 12.079

Review 9.  The autophagic lysosomal system in outflow pathway physiology and pathophysiology.

Authors:  Paloma B Liton
Journal:  Exp Eye Res       Date:  2015-07-27       Impact factor: 3.467

10.  Higher concentration of transforming growth factor-beta in aqueous humor of glaucomatous eyes and diabetic eyes.

Authors:  Yuko Ochiai; Haruyuki Ochiai
Journal:  Jpn J Ophthalmol       Date:  2002 May-Jun       Impact factor: 2.447

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  34 in total

1.  Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma.

Authors:  Michelle D Drewry; Pratap Challa; John G Kuchtey; Iris Navarro; Inas Helwa; Yanzhong Hu; Hongmei Mu; W Daniel Stamer; Rachel W Kuchtey; Yutao Liu
Journal:  Hum Mol Genet       Date:  2018-04-01       Impact factor: 6.150

Review 2.  Precision medicine to prevent glaucoma-related blindness.

Authors:  Sayoko E Moroi; David M Reed; David S Sanders; Ahmed Almazroa; Lawrence Kagemann; Neil Shah; Nakul Shekhawat; Julia E Richards
Journal:  Curr Opin Ophthalmol       Date:  2019-05       Impact factor: 3.761

3.  Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.

Authors:  Xikun Han; Emmanuelle Souzeau; Jue-Sheng Ong; Jiyuan An; Owen M Siggs; Kathryn P Burdon; Stephen Best; Ivan Goldberg; Paul R Healey; Stuart L Graham; Jonathan B Ruddle; Richard A Mills; John Landers; Anna Galanopoulos; Andrew J R White; Robert Casson; David A Mackey; Alex W Hewitt; Puya Gharahkhani; Jamie E Craig; Stuart MacGregor
Journal:  JAMA Ophthalmol       Date:  2019-01-01       Impact factor: 7.389

Review 4.  Inducible rodent models of glaucoma.

Authors:  Iok-Hou Pang; Abbot F Clark
Journal:  Prog Retin Eye Res       Date:  2019-09-23       Impact factor: 21.198

Review 5.  Are we ready for genetic testing for primary open-angle glaucoma?

Authors:  Anthony P Khawaja; Ananth C Viswanathan
Journal:  Eye (Lond)       Date:  2018-01-30       Impact factor: 3.775

Review 6.  Normal tension glaucoma: review of current understanding and mechanisms of the pathogenesis.

Authors:  H E Killer; A Pircher
Journal:  Eye (Lond)       Date:  2018-02-19       Impact factor: 3.775

7.  A Common Glaucoma-risk Variant of SIX6 Alters Retinal Nerve Fiber Layer and Optic Disc Measures in a European Population: The EPIC-Norfolk Eye Study.

Authors:  Anthony P Khawaja; Michelle P Y Chan; Jennifer L Y Yip; David C Broadway; David F Garway-Heath; Ananth C Viswanathan; Robert Luben; Shabina Hayat; Michael A Hauser; Nicholas J Wareham; Kay-Tee Khaw; Brad Fortune; R Rand Allingham; Paul J Foster
Journal:  J Glaucoma       Date:  2018-09       Impact factor: 2.503

8.  Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

Authors:  Hannah Currant; Pirro Hysi; Tomas W Fitzgerald; Puya Gharahkhani; Pieter W M Bonnemaijer; Anne Senabouth; Alex W Hewitt; Denize Atan; Tin Aung; Jason Charng; Hélène Choquet; Jamie Craig; Peng T Khaw; Caroline C W Klaver; Michiaki Kubo; Jue-Sheng Ong; Louis R Pasquale; Charles A Reisman; Maciej Daniszewski; Joseph E Powell; Alice Pébay; Mark J Simcoe; Alberta A H J Thiadens; Cornelia M van Duijn; Seyhan Yazar; Eric Jorgenson; Stuart MacGregor; Chris J Hammond; David A Mackey; Janey L Wiggs; Paul J Foster; Praveen J Patel; Ewan Birney; Anthony P Khawaja
Journal:  PLoS Genet       Date:  2021-05-12       Impact factor: 5.917

Review 9.  Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.

Authors:  Hailee F Scelsi; Brett M Barlow; Emily G Saccuzzo; Raquel L Lieberman
Journal:  Hum Mutat       Date:  2021-06-24       Impact factor: 4.700

10.  Structural Arrangement within a Peptide Fibril Derived from the Glaucoma-Associated Myocilin Olfactomedin Domain.

Authors:  Yuan Gao; Emily G Saccuzzo; Shannon E Hill; Dustin J E Huard; Alicia S Robang; Raquel L Lieberman; Anant K Paravastu
Journal:  J Phys Chem B       Date:  2021-03-08       Impact factor: 2.991

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