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The genetics of intraocular pressure.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Ojha, Pallavi Wiggs, Janey L. Pasquale, Louis R.
Description	Author Affiliation: Ojha P ( Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston , Massachusetts , USA and.)
Abstract	Glaucoma is a leading cause of irreversible blindness. Intraocular pressure (IOP) is the only modifiable risk factor for glaucoma, yet there is little known about the molecular events that regulate IOP. Genetic and genomic studies have helped identify genes that influence IOP and could lead to the identification of biological pathways that serve as targets for novel pressure-modifying therapies. Genetic linkage studies resulted in the identification of several genes that cause Mendelian (autosomal dominant or autosomal recessive) forms of high-pressure glaucoma, including MYOC. PITX2, FOXC1, and CYP1B1. Classical twin studies suggest that IOP is a heritable trait. More recently, genome-wide association studies (GWAS) have shown that common genetic variants in the GAS7 and TMCO1 genomic regions are associated with elevated IOP. TMCO1 has also been associated with primary open-angle glaucoma in patients with advanced disease. A further study identifying additional genes contributing to IOP will be necessary to fully define the underlying genetic architecture of IOP.
File Format	HTM / HTML
ISSN	08820538
Issue Number	5-6
Volume Number	28
e-ISSN	17445205
Journal	Seminars in Ophthalmology
Language	English
Publisher	Taylor & Francis
Publisher Date	2013-09-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Ophthalmology Glaucoma Genetics Intraocular Pressure Aryl Hydrocarbon Hydroxylases Cytochrome P-450 Cyp1b1 Cytoskeletal Proteins Eye Proteins Forkhead Transcription Factors Genetic Variation Genome-wide Association Study Glycoproteins Homeodomain Proteins Humans Risk Factors Transcription Factors Journal Article Review
Content Type	Text
Resource Type	Article
Subject	Ophthalmology

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