Literature DB >> 21871452

Molecular genetics in glaucoma.

Yutao Liu1, R Rand Allingham.   

Abstract

Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle-closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to glaucoma phenotypes. This review examines the current status of genetic investigations of POAG, ACG, XFG, including the less common forms of glaucoma primary congenital glaucoma (PCG), the developmental glaucomas, and pigment dispersion glaucoma. Copyright Â
© 2011 Elsevier Ltd. All rights reserved.

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Year:  2011        PMID: 21871452      PMCID: PMC4293633          DOI: 10.1016/j.exer.2011.08.007

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


  132 in total

1.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Authors:  Lucia A Hindorff; Praveen Sethupathy; Heather A Junkins; Erin M Ramos; Jayashri P Mehta; Francis S Collins; Teri A Manolio
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-27       Impact factor: 11.205

2.  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

3.  Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.

Authors:  Mandy Krumbiegel; Francesca Pasutto; Ursula Schlötzer-Schrehardt; Steffen Uebe; Matthias Zenkel; Christian Y Mardin; Nicole Weisschuh; Daniela Paoli; Eugen Gramer; Christian Becker; Arif B Ekici; Bernhard H F Weber; Peter Nürnberg; Friedrich E Kruse; André Reis
Journal:  Eur J Hum Genet       Date:  2010-09-01       Impact factor: 4.246

4.  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

5.  Genome-wide scan of exfoliation syndrome.

Authors:  Susanna Lemmelä; Eva Forsman; Pertti Sistonen; Aldur Eriksson; Henrik Forsius; Irma Järvelä
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-09       Impact factor: 4.799

6.  Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans. The Baltimore Eye Survey.

Authors:  A Sommer; J M Tielsch; J Katz; H A Quigley; J D Gottsch; J Javitt; K Singh
Journal:  Arch Ophthalmol       Date:  1991-08

7.  Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP.

Authors:  Guozhi Zhu; Chuan-Jin Wu; Yongge Zhao; Jonathan D Ashwell
Journal:  Curr Biol       Date:  2007-08-21       Impact factor: 10.834

8.  Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus.

Authors:  Nadia De Marco; Mario Buono; Fulvia Troise; Graciana Diez-Roux
Journal:  J Biol Chem       Date:  2006-03-28       Impact factor: 5.157

Review 9.  Exome sequencing: the sweet spot before whole genomes.

Authors:  Jamie K Teer; James C Mullikin
Journal:  Hum Mol Genet       Date:  2010-08-12       Impact factor: 6.150

10.  Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Authors:  Yi Yu; Tushar R Bhangale; Jesen Fagerness; Stephan Ripke; Gudmar Thorleifsson; Perciliz L Tan; Eric H Souied; Andrea J Richardson; Joanna E Merriam; Gabriëlle H S Buitendijk; Robyn Reynolds; Soumya Raychaudhuri; Kimberly A Chin; Lucia Sobrin; Evangelos Evangelou; Phil H Lee; Aaron Y Lee; Nicolas Leveziel; Donald J Zack; Betsy Campochiaro; Peter Campochiaro; R Theodore Smith; Gaetano R Barile; Robyn H Guymer; Ruth Hogg; Usha Chakravarthy; Luba D Robman; Omar Gustafsson; Haraldur Sigurdsson; Ward Ortmann; Timothy W Behrens; Kari Stefansson; André G Uitterlinden; Cornelia M van Duijn; Johannes R Vingerling; Caroline C W Klaver; Rando Allikmets; Milam A Brantley; Paul N Baird; Nicholas Katsanis; Unnur Thorsteinsdottir; John P A Ioannidis; Mark J Daly; Robert R Graham; Johanna M Seddon
Journal:  Hum Mol Genet       Date:  2011-06-10       Impact factor: 6.150

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  60 in total

1.  Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Authors:  Megan Ulmer; Jun Li; Brian L Yaspan; Ayse Bilge Ozel; Julia E Richards; Sayoko E Moroi; Felicia Hawthorne; Donald L Budenz; David S Friedman; Douglas Gaasterland; Jonathan Haines; Jae H Kang; Richard Lee; Paul Lichter; Yutao Liu; Louis R Pasquale; Margaret Pericak-Vance; Anthony Realini; Joel S Schuman; Kuldev Singh; Douglas Vollrath; Robert Weinreb; Gadi Wollstein; Donald J Zack; Kang Zhang; Terri Young; R Rand Allingham; Janey L Wiggs; Allison Ashley-Koch; Michael A Hauser
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-07-03       Impact factor: 4.799

2.  Association study in a South Indian population supports rs1015213 as a risk factor for primary angle closure.

Authors:  Roopam Duvesh; Anshuman Verma; Rengaraj Venkatesh; Srinivasan Kavitha; Pradeep Y Ramulu; Robert Wojciechowski; Periasamy Sundaresan
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-08-19       Impact factor: 4.799

3.  Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.

Authors:  Yutao Liu; Michael A Hauser; Stephen K Akafo; Xuejun Qin; Shiroh Miura; Jason R Gibson; Joshua Wheeler; Douglas E Gaasterland; Pratap Challa; Leon W Herndon; Robert Ritch; Sayoko E Moroi; Louis R Pasquale; Christopher A Girkin; Donald L Budenz; Janey L Wiggs; Julia E Richards; Allison E Ashley-Koch; R Rand Allingham
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-09-17       Impact factor: 4.799

4.  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

5.  Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Authors:  L M Reis; R C Tyler; E Weh; K E Hendee; K F Schilter; J A Phillips; S Sequeira; A Schinzel; E V Semina
Journal:  Clin Genet       Date:  2016-07-12       Impact factor: 4.438

6.  Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.

Authors:  Meha Kabra; Wei Zhang; Sonika Rathi; Anil K Mandal; Sirisha Senthil; Goutham Pyatla; Muralidhar Ramappa; Seema Banerjee; Konegari Shekhar; Srinivas Marmamula; Asha L Mettla; Inderjeet Kaur; Rohit C Khanna; Hemant Khanna; Subhabrata Chakrabarti
Journal:  Hum Genet       Date:  2017-06-15       Impact factor: 4.132

7.  Association of Toll-like receptor 4 single-nucleotide polymorphisms Asp299Gly and Thr399Ile with the risk of primary open angle glaucoma.

Authors:  Jose Navarro-Partida; Abril Bernardette Martinez-Rizo; Pedro Ramirez-Barrera; Jesus Bernardino Velazquez-Fernandez; Veronica A Mondragon-Jaimes; Arturo Santos-Garcia; Veronica Benites-Godinez
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2017-02-18       Impact factor: 3.117

8.  TBK1 and flanking genes in human retina.

Authors:  John H Fingert; Benjamin W Darbro; Qining Qian; Richard Van Rheeden; Kathy Miller; Megan Riker; Frances Solivan-Timpe; Ben R Roos; Alan L Robin; Robert F Mullins
Journal:  Ophthalmic Genet       Date:  2013-02-20       Impact factor: 1.803

Review 9.  Hypoxia-inducible factor-1 (HIF-1): a potential target for intervention in ocular neovascular diseases.

Authors:  Ramya Krishna Vadlapatla; Aswani Dutt Vadlapudi; Ashim K Mitra
Journal:  Curr Drug Targets       Date:  2013-07       Impact factor: 3.465

10.  Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.

Authors:  Abhishek Nag; Cristina Venturini; Pirro G Hysi; Matthew Arno; Estibaliz Aldecoa-Otalora Astarloa; Stuart Macgregor; Alex W Hewitt; Terri L Young; Paul Mitchell; Ananth C Viswanathan; David A Mackey; Christopher J Hammond
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-05-01       Impact factor: 4.799

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