Update on the genetics of primary open-angle glaucoma

doi:10.1016/j.exer.2019.107795

Review

. 2019 Nov:188:107795.

doi: 10.1016/j.exer.2019.107795. Epub 2019 Sep 13.

Update on the genetics of primary open-angle glaucoma

Hannah Youngblood¹, Michael A Hauser², Yutao Liu³

Affiliations

¹ Department of Cellular Biology and Anatomy, Augusta University, 1460 Laney Walker Blvd CB1101, Augusta, GA, 30912, United States. Electronic address: hyoungblood@augusta.edu.
² 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.
³ 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.

PMID: 31525344
PMCID: PMC6901111
DOI: 10.1016/j.exer.2019.107795

Review

Update on the genetics of primary open-angle glaucoma

Hannah Youngblood et al. Exp Eye Res. 2019 Nov.

. 2019 Nov:188:107795.

doi: 10.1016/j.exer.2019.107795. Epub 2019 Sep 13.

Authors

Hannah Youngblood¹, Michael A Hauser², Yutao Liu³

Affiliations

¹ Department of Cellular Biology and Anatomy, Augusta University, 1460 Laney Walker Blvd CB1101, Augusta, GA, 30912, United States. Electronic address: hyoungblood@augusta.edu.
² 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.
³ 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.

PMID: 31525344
PMCID: PMC6901111
DOI: 10.1016/j.exer.2019.107795

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.

Keywords: Aqueous humor; Endophenotype; GWAS; Genetics; Glaucoma; Intraocular pressure; POAG; Proteomics.

PubMed Disclaimer

Conflict of interest statement

Competing interest statement: The authors declare no competing financial interests.

Cited by

Aging, Cellular Senescence, and Glaucoma.
Zhang Y, Huang S, Xie B, Zhong Y. Zhang Y, et al. Aging Dis. 2024 Apr 1;15(2):546-564. doi: 10.14336/AD.2023.0630-1. Aging Dis. 2024. PMID: 37725658 Free PMC article. Review.
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF, Barlow BM, Saccuzzo EG, Lieberman RL. Scelsi HF, et al. Hum Mutat. 2021 Aug;42(8):903-946. doi: 10.1002/humu.24238. Epub 2021 Jun 24. Hum Mutat. 2021. PMID: 34082484 Free PMC article. Review.
Application of advanced magnetic resonance imaging in glaucoma: a narrative review.
Kang L, Wan C. Kang L, et al. Quant Imaging Med Surg. 2022 Mar;12(3):2106-2128. doi: 10.21037/qims-21-790. Quant Imaging Med Surg. 2022. PMID: 35284278 Free PMC article. Review.
A perspective from the National Eye Institute Extracellular Vesicle Workshop: Gaps, needs, and opportunities for studies of extracellular vesicles in vision research.
Lee SY, Klingeborn M, Bulte JWM, Chiu DT, Chopp M, Cutler CW, Das S, Egwuagu CE, Fowler CD, Hamm-Alvarez SF, Lee H, Liu Y, Mead B, Moore TL, Ravindran S, Shetty AK, Skog J, Witwer KW, Djalilian AR, Weaver AM. Lee SY, et al. J Extracell Vesicles. 2024 Dec;13(12):e70023. doi: 10.1002/jev2.70023. J Extracell Vesicles. 2024. PMID: 39665315 Free PMC article. Review.
A Glaucoma Patient with an Intraocular Pressure Decrease following Total Gastrectomy and Postoperative Anticancer Treatment.
Takada Y, Sumioka T, Tamura T, Saika S. Takada Y, et al. Case Rep Ophthalmol Med. 2023 Feb 14;2023:9529229. doi: 10.1155/2023/9529229. eCollection 2023. Case Rep Ophthalmol Med. 2023. PMID: 36824293 Free PMC article.

See all "Cited by" articles

References

1. Abecasis GR, Cookson WOC, 2000. GOLD - Graphical Overview of Linkage Disequilibrium. Bioinformatics 16, 182–183. - PubMed
1. Agapova OA, Kaufman PL, Hernandez MR, 2006. Androgen receptor and NFkB expression in human normal and glaucomatous optic nerve head astrocytes in vitro and in experimental glaucoma. Experimental eye research 82, 1053–1059. - PubMed
1. Aghaian E, Choe JE, Lin S, Stamper RL, 2004. Central corneal thickness of Caucasians, Chinese, Hispanics, Filipinos, African Americans, and Japanese in a glaucoma clinic. Ophthalmology 111, 2211–2219. - PubMed
1. Akar ME, Taskin O, Yucel I, Akar Y, 2004. The effect of the menstrual cycle on optic nerve head analysis in healthy women. Acta Ophthalmol Scand 82, 741–745. - PubMed
1. Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP Jr., Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EN, Consortium A, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL, 2016. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nature genetics 48, 189–194. - PMC - PubMed

Publication types

Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Grants and funding

LinkOut - more resources

Full Text Sources

[1] Abecasis GR, Cookson WOC, 2000. GOLD - Graphical Overview of Linkage Disequilibrium. Bioinformatics 16, 182–183. - PubMed

[2] Abecasis GR, Cookson WOC, 2000. GOLD - Graphical Overview of Linkage Disequilibrium. Bioinformatics 16, 182–183. - PubMed

[3] Agapova OA, Kaufman PL, Hernandez MR, 2006. Androgen receptor and NFkB expression in human normal and glaucomatous optic nerve head astrocytes in vitro and in experimental glaucoma. Experimental eye research 82, 1053–1059. - PubMed

[4] Agapova OA, Kaufman PL, Hernandez MR, 2006. Androgen receptor and NFkB expression in human normal and glaucomatous optic nerve head astrocytes in vitro and in experimental glaucoma. Experimental eye research 82, 1053–1059. - PubMed

[5] Aghaian E, Choe JE, Lin S, Stamper RL, 2004. Central corneal thickness of Caucasians, Chinese, Hispanics, Filipinos, African Americans, and Japanese in a glaucoma clinic. Ophthalmology 111, 2211–2219. - PubMed

[6] Aghaian E, Choe JE, Lin S, Stamper RL, 2004. Central corneal thickness of Caucasians, Chinese, Hispanics, Filipinos, African Americans, and Japanese in a glaucoma clinic. Ophthalmology 111, 2211–2219. - PubMed

[7] Akar ME, Taskin O, Yucel I, Akar Y, 2004. The effect of the menstrual cycle on optic nerve head analysis in healthy women. Acta Ophthalmol Scand 82, 741–745. - PubMed

[8] Akar ME, Taskin O, Yucel I, Akar Y, 2004. The effect of the menstrual cycle on optic nerve head analysis in healthy women. Acta Ophthalmol Scand 82, 741–745. - PubMed

[9] Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP Jr., Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EN, Consortium A, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL, 2016. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nature genetics 48, 189–194. - PMC - PubMed

[10] Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP Jr., Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EN, Consortium A, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL, 2016. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nature genetics 48, 189–194. - PMC - PubMed

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Update on the genetics of primary open-angle glaucoma

Affiliations

Update on the genetics of primary open-angle glaucoma

Authors

Affiliations

Abstract

Conflict of interest statement

Similar articles

Cited by

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Abstract

Conflict of interest statement

Similar articles

Cited by

References

Publication types

MeSH terms

Related information

Grants and funding

LinkOut - more resources

Full Text Sources