Major review: Molecular genetics of primary open-angle glaucoma

Yutao Liu; R. Rand Allingham

doi:10.1016/j.exer.2017.05.002

Major review: Molecular genetics of primary open-angle glaucoma

Yutao Liu, R. Rand Allingham

Cellular Biology and Anatomy

Research output: Contribution to journal › Review article › peer-review

44 Scopus citations

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.

Original language	English (US)
Pages (from-to)	62-84
Number of pages	23
Journal	Experimental eye research
Volume	160
DOIs	https://doi.org/10.1016/j.exer.2017.05.002
State	Published - Jul 2017

Keywords

Association
Differential expression
Endophenotype
GWAS
Genetics
Glaucoma
Linkage
POAG

ASJC Scopus subject areas

Ophthalmology
Sensory Systems
Cellular and Molecular Neuroscience

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title = "Major review: Molecular genetics of primary open-angle glaucoma",

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.",

keywords = "Association, Differential expression, Endophenotype, GWAS, Genetics, Glaucoma, Linkage, POAG",

author = "Yutao Liu and Allingham, {R. Rand}",

note = "Funding Information: This work was supported by the Glaucoma Research Foundation (San Francisco, CA, USA) (YL), the Glaucoma Foundation (New York, NY, USA) (YL), BrightFocus Foundation (Formerly called American Health Assistance Foundation) (Clarksburg, MD, USA) (YL), Research to Prevent Blindness, Inc. (New York, NY, USA), National Eye Institute (NEI, Bethesda, MD, USA) Grant R01EY023242 (YL), R03EY014939 (RRA), R01EY015543 (RRA), and R01EY023646 (RRA).",

year = "2017",

month = jul,

doi = "10.1016/j.exer.2017.05.002",

language = "English (US)",

volume = "160",

pages = "62--84",

journal = "Experimental Eye Research",

issn = "0014-4835",

publisher = "Academic Press Inc.",

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AU - Liu, Yutao

AU - Allingham, R. Rand

N1 - Funding Information: This work was supported by the Glaucoma Research Foundation (San Francisco, CA, USA) (YL), the Glaucoma Foundation (New York, NY, USA) (YL), BrightFocus Foundation (Formerly called American Health Assistance Foundation) (Clarksburg, MD, USA) (YL), Research to Prevent Blindness, Inc. (New York, NY, USA), National Eye Institute (NEI, Bethesda, MD, USA) Grant R01EY023242 (YL), R03EY014939 (RRA), R01EY015543 (RRA), and R01EY023646 (RRA).

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N2 - 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.

AB - 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.

KW - Association

KW - Differential expression

KW - Endophenotype

KW - GWAS

KW - Genetics

KW - Glaucoma

KW - Linkage

KW - POAG

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