Genome-wide studies of primary open-angle glaucoma

Eliseeva N.V.; Churnosov M.I.

doi:https://doi.org/10.17116/oftalma2020136051129

Close metadata

Recommended articles:

Efficacy and safety of the fixed combination of dorzolamide/timolol (Dorzotimol) in primary open-angle glaucoma. Russian Annals of Ophthalmology. 2024;(5):125-129

The role of the structure of the lamina cribrosa in the diagnosis and treatment of glaucoma. Structural and circulatory changes in the lamina cribrosa with aging and elevated intraocular pressure. Russian Annals of Ophthalmology. 2025;(1):76-82

Neuroprotective therapy of glaucoma. Russian Annals of Ophthalmology. 2025;(1):83-90

Modern approaches to combined surgery for cataract and primary open-angle glaucoma. Russian Annals of Ophthalmology. 2025;(3):92-99

The relationship between neuropsychological indicators and neuroimaging changes according to MRI morphometry in patients with Alzheimer’s disease and glaucoma. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(12):142-152

Abstract:

The article reviews literature on developmental stages of genome-wide association studies (GWAS) of primary open-angle glaucoma (POAG). This problem is currently developing and one of the most complex in ophthalmology. The article considers main GWAS of POAG and established GWAS-significant polymorphisms associated with the disease. The topic of genome-wide studies of primary open-angle glaucoma will be of certain interest to ophthalmologists, materials on GWAS-significant loci can be used both in the selection of polymorphisms in replicative studies of POAG in various populations of Russia, and to expand ideas about the molecular genetic mechanisms of the development of the disease.

Keywords:

primary open-angle glaucoma

polymorphisms

genome-wide studies

Authors:

Eliseeva N.V.

Belgorod State National Research University

Churnosov M.I.

Belgorod State National Research University

ORCID: 0000-0003-1254-6134

Received:

16.03.2020

Accepted:

17.05.2020

Close metadata

References:

Egorov EA. National Guide to Glaucoma: For Practitioner. Eds Egorov E.A., Astakhov Yu.S., Erichev V.P. 3rd ed. M.: GEOTAR-Media; 2015. (In Russ.).
Kreft D, Doblhammer G, Guthoff RF, Frech S. Prevalence, incidence and risk factors of primary open-angle glaucoma — a cohort study based on longitudinal data from a German public health in surname. BMC Public Health. 2019;19:851. https://doi.org/10.1186/s12889-019-6935-6
Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007;317(5843):1397-1400. https://doi.org/10.1126/science.1146554
Nakato M, Ikeda Y, Taniguchi T, et al. Susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. Proc Natl Acad SciUSA. 2009;106(31);128-142. https://doi.org/10.1073/pnas.0906397106
Thorleifsson G, Walters GB, Hewit AW, et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet. 2010;42(10):906-909. https://doi.org/10.1038/ng.661
Burden KP, Macgregor S, Hewitt AW, et al. Genome-wide association study identifies susceptibility loci for open-angle glaucoma at TMCO1and CDKN2B-AS1. Nat Genet. 2011;43(6):574-578. https://doi.org/10.1038/ng.824
Nakano M, Ikeda Y, Tokuda Y, Fuwa M, Omi N, Ueno M, Imai K, Adachi H, Kageyama M, Mori K, et al. Common variants in cdkn2b-asl associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in japanese. PLoS ONE. 2012;7:e33389. https://doi.org/10.1371/journal.pone.0033389
Osman W, Low SK, Takahashi A, et al. A genome-wide association study in the Japanese population confirms 9p21and 14q23 as susceptibility loci for primary open-angle glaucoma. Hum Mol Genet. 2012;21(12):2836-2842. https://doi.org/10.1093/hmg/dds103
Takamoto M, Kaburari T, Mabuchi A, et al. Common variants on chromosome 9p21 are associated with normal tension glaucoma. PLoS One. 2012; 7(7):e40107. https://doi.org/10.1371/journal.pone.0040107
Wiggs JL, Yaspan DL, Hauser MA, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012;8(4):e1002654. https://doi.org/10.137/journal.pgen.1002654
Vithana E, Khor CC, Qiao C, et al. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2012;44(10):1142-1146. https://doi.org/10.1038/ng.2390
Nakato M, Ikeda Y, Tokuda Y, et al. Novel common variants susceptible haplotype for exfoliation glaucoma specific to Asian population. Sci Rep. 2014; 4:5340. https://doi.org/10.1038/scep05340
Charahkhani P, Burdon RK, Fogarty R, et al. Common variants near ABCA1,AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014;(10):1120-1125. https://doi.org/10.1038/ng/3079
Chen Y, Lin Y, Vithana EN, et al. Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. Nat Genet. 2014; 46(10):1115-1119. https://doi.org/10.1038/ng.3078
Aung T, Ozaki M, Mizoguchi T, et al. A common variants mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet. 2015;47(4):387-392. https://doi.org/10.1038/ng.3226
Khor C, Do T, Jia H, et al. Genome-wide association analyses identifies five new susceptibility loci for with primary angle closure glaucoma. Nat Genet. 2016;48(5):556-562. https://doi.org/10.1038/ng3540
Bailey JN, Loomis SJ, Kang JH, et al. Genome-wide association analyses identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 2016;48(2)189-194. https://doi.org/10.1038/ng.3882
Springelkamp H, Iglesias AI, Mishra A, et al. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Hum Mol Genet. 2017;26(2):438-453. https://doi.org/10.1093/hmg/ddw399
Charahkhani P,Burton KP, Cooke Baily JN, et al. Analysis combining correlated glaucoma taints identifies five new risk loci for open-angle glaucoma. Sci Rep. 2018;8(1):124. https://doi.org/10.1038/s41598-018-435-9
Choquet H, Paylakhi S, Kneeland SC, et al. A multiethnic genome-wide wide association study of open-angle glaucoma identifies novel risk loci Nat Commun. 2018;9(1):2278. https://doi.org/10.1038/s 41467-018-04555-4
Shiga Y, Akiyama M, Nishigbchi KM,et al. Genome-wide wide association study identifies seven novel susceptibility loci open-angle glaucoma. Hum Mol Genet. 2018;27(8):1486-1496. https://doi.org/10.1093/hmg/ddy053
MacGregor S, Ong JS, An J, et al. Genome-wide wide association study of intraocular pressure uncovers new pathways to glaucoma. Nat Genet. 2018; 50(8):1067-1071. https://doi.org/10.1038/s41588-018-0176-y
Ponomarenko IV. Selection of polymorphic loci for association analysis in genetic-epidemiological studies. Nauchnyi rezul’tat. Meditsina i farmatsiya = Research result. Medicine and Pharmacy. 2018;4(2):40-54. (In Russ). https://doi.org/10.18413/2313-8955-2018-4-2-0-5
Sorokina IN, Rudykh NA, Bezmenova IN, et al. Population genetic characteristics and genetic epidemiological research of candidate genes associations with multifactorial diseases. Nauchnye rezul’taty biomeditsinskikh issledovanii = Research Results in Biomedicine. 2018;4(4):20-30. (In Russ). https://doi.org/10.18413/2313-8955-2018-4-4-0-3
Kirilenko MYu, Tikunova EV, Sirotina SS, Polonikov AV, Bushueva OYu, Churnosov MI. Studying the association between genetic polymorphism of growth factors and the development of primary open-angle glaucoma. Vestnik oftal’mologii. 2017;133(3):9-15. (In Russ.). https://doi.org/10.17116/oftalma 201713339-15
Tikunova EV, CHurnosov MI. Genetic studies in primary open-angle glaucoma. Vestnik oftal’mologii. 2014;130(5):96-99. (In Russ.).
Tikunova E, Ovtcharova V, Reshetnikov E, Dvornyk V, Polonikov A, Bushueva O, Churnosov M. Genes of tumor necrosis and their receptors and the primary open angle glaucoma. Int J Ophthalmol. 2017;10(10):1490-1494. https://doi.org/10.18240/ijo2017.10.02.eCollection.2017
Svinareva DI. The contribution of gene-gene interactions of polymorphic loci of matrix metalloproteinases to susceptibility to primary open-angle glaucoma in men. Nauchnye rezul’taty biomeditsinskikh issledovanii = Research Results in Biomedicine. 2020;6(1):63-77. (In Russ.). https://doi.org/10.18413/2658-6533-2020-6-1-0-6
Eliseeva NV. A replicative study of the associations of polymorphic loci of the LOXL1 and CDKN2B-AS1 genes with the development of primary open-angle glaucoma in men of the Central Black Earth Region of the Russian Federation. Nauchnye rezul’taty biomeditsinskikh issledovanii = Research Results in Biomedicine. 2020;6(2):198-208. (In Russ.). https://doi.org/10.18413/2658-6533-2020-6-2-0-4