Tags

Type your tag names separated by a space and hit enter

Update on the genetics of primary open-angle glaucoma.
Exp Eye Res 2019; 188:107795EE

Abstract

Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible blindness in the world. This ocular disease describes a set of optic neuropathies of which primary open angle glaucoma (POAG) is the most common. POAG is associated with progressive visual field deterioration resulting from damage to the optic nerve and loss of retinal ganglion cells. Risk factors for POAG include elevated intraocular pressure, aging, African and Hispanic ancestry, and a positive family history of POAG. Multiple genes have been found to contribute to POAG. Much of POAG genetics and pathology has yet to be explained. Recent genome-wide association studies have identified a large number of novel loci associated with POAG and its endophenotypes. Genomic and proteomic profiling of biofluids has contributed to our knowledge of differential gene expression in POAG. Functional studies both in cell culture and animal models have confirmed the effects of variants and differential gene expression on ocular physiology while in silico analyses have increased our understanding of disease risk and progression so that we might better diagnose and treat this complex genetic illness.

Authors+Show Affiliations

Department of Cellular Biology and Anatomy, Augusta University, 1460 Laney Walker Blvd CB1101, Augusta, GA, 30912, United States. Electronic address: hyoungblood@augusta.edu.Departments of Medicine and Ophthalmology, Duke University Medical Center, Durham, NC, USA; Duke Molecular Physiology Institute, 300 N Duke Street, Durham, NC, 27701, United States. Electronic address: mike.hauser@duke.edu.Department of Cellular Biology and Anatomy, Augusta University, 1460 Laney Walker Blvd CB1101, Augusta, GA, 30912, United States; Center for Biotechnology and Genomic Medicine, Augusta University, 1120 15th Street, Augusta, GA, 30912, United States; James and Jean Culver Vision Discovery Institute, Augusta University, 1460 Laney Walker Blvd CB1101, Augusta, GA, 30912, United States. Electronic address: yutliu@augusta.edu.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31525344

Citation

Youngblood, Hannah, et al. "Update On the Genetics of Primary Open-angle Glaucoma." Experimental Eye Research, vol. 188, 2019, p. 107795.
Youngblood H, Hauser MA, Liu Y. Update on the genetics of primary open-angle glaucoma. Exp Eye Res. 2019;188:107795.
Youngblood, H., Hauser, M. A., & Liu, Y. (2019). Update on the genetics of primary open-angle glaucoma. Experimental Eye Research, 188, p. 107795. doi:10.1016/j.exer.2019.107795.
Youngblood H, Hauser MA, Liu Y. Update On the Genetics of Primary Open-angle Glaucoma. Exp Eye Res. 2019 Sep 13;188:107795. PubMed PMID: 31525344.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Update on the genetics of primary open-angle glaucoma. AU - Youngblood,Hannah, AU - Hauser,Michael A, AU - Liu,Yutao, Y1 - 2019/09/13/ PY - 2019/06/19/received PY - 2019/09/03/revised PY - 2019/09/10/accepted PY - 2019/9/17/pubmed PY - 2019/9/17/medline PY - 2019/9/17/entrez KW - Aqueous humor KW - Endophenotype KW - GWAS KW - Genetics KW - Glaucoma KW - Intraocular pressure KW - POAG KW - Proteomics SP - 107795 EP - 107795 JF - Experimental eye research JO - Exp. Eye Res. VL - 188 N2 - Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible blindness in the world. This ocular disease describes a set of optic neuropathies of which primary open angle glaucoma (POAG) is the most common. POAG is associated with progressive visual field deterioration resulting from damage to the optic nerve and loss of retinal ganglion cells. Risk factors for POAG include elevated intraocular pressure, aging, African and Hispanic ancestry, and a positive family history of POAG. Multiple genes have been found to contribute to POAG. Much of POAG genetics and pathology has yet to be explained. Recent genome-wide association studies have identified a large number of novel loci associated with POAG and its endophenotypes. Genomic and proteomic profiling of biofluids has contributed to our knowledge of differential gene expression in POAG. Functional studies both in cell culture and animal models have confirmed the effects of variants and differential gene expression on ocular physiology while in silico analyses have increased our understanding of disease risk and progression so that we might better diagnose and treat this complex genetic illness. SN - 1096-0007 UR - https://www.unboundmedicine.com/medline/citation/31525344/Update_on_the_genetics_of_primary_open-angle_glaucoma L2 - https://linkinghub.elsevier.com/retrieve/pii/S0014-4835(19)30451-8 DB - PRIME DP - Unbound Medicine ER -