Genetic studies of normal tension glaucoma
DOI: 10.32364/2311-7729-2024-24-4-5
D.Yu. Plotnikov, E.V. Valeeva
Kazan State Medical University, Kazan, Russian Federation
The paper presents a review of literature on genetic studies of normal tension glaucoma (NTG). Actually, it is known that NTG is a multifactorial disease whose development includes environmental and genetic factors. To date, a number of studies focused on NTG-associated genetic factors was performed. Several of them reported that polymorphisms of the OPA1 and OPTN genes can be genetic markers of NTG risk. The studies demonstrated that polymorphisms of genes encoding mitochondrial proteins including mitofusins 1 and 2, as well as the PARL gene, are associated with an increased NTG risk. In addition, an association of single-nucleotide polymorphisms of the Toll-like receptor 4 gene with NTG was revealed. Altered immune response and enhanced apoptosis may also play a role in NTG pathogenesis. Variations in a number of TBK1 gene copies are also associated with NTG development in some populations. Among multiple genome-wide association studies (GWAS) of the glaucoma, genetic architecture of NTG has been studied only in isolated cases. These studies identified several NTG-associated genes such as SRBD1, ELOVL5, CDKN2B-AS1, FOXC1, TMCO1, CDKN1A and SIX1-SIX6. The genetic study results provide a better understanding of the glaucoma development mechanisms, and the data can be used to design novel diagnostic and therapeutic methods.
Keywords: glaucoma, normal tension glaucoma, genes, genetic studies, polymorphisms.
For citation: Plotnikov D.Yu., Valeeva E.V. Genetic studies of normal tension glaucoma. Russian Journal of Clinical Ophthalmology. 2024;24(4):193–199 (in Russ.). DOI: 10.32364/2311-7729-2024-24-4-5
About the authors:
Denis Yu. Plotnikov — C. Sc. (Med.), ophthalmologist, Head of the Laboratory of Integrative Epidemiology, Central Scientific Research Laboratory, Kazan State Medical University; 49, Butlerov str., Kazan, 420012, Russian Federation; ORCID iD 0000-0002-9950-8992
Elena V. Valeeva — C. Sc. (Biol.), Junior Scientific Officer of the Laboratory of Genetics of Aging and Longevity, Kazan State Medical University; 49, Butlerov str., Kazan, 420012, Russian Federation; ORCID iD 0000-0001-7080-3878
Contact information: Denis Yu. Plotnikov, e-mail: Denis.plotnikov@kazangmu.ru
Financial Disclosure: the work was carried out under the sponsorship of a grant from the Kazan State Medical University (No. 2/22-2 dt. 01.08.2022).
There is no conflict of interest.
Received 06.03.2024.
Revised 29.03.2024.
Accepted 23.04.2024.
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2. Mason R.P., Kosoko O., Wilson M.R. et al. National Survey of the Prevalence and Risk Factors of Glaucoma in St. Lucia, West Indies. Ophthalmol. 1989;96:1363–1368. DOI: 10.1016/S0161-6420(89)32708-4
3. Волков В.В. Глаукома при псевдонормальном давлении. М.: Медицина; 2001.Volkov V.V. Glaucoma with pseudo-normal pressure. M.: Medicine; 2001 (in Russ.).
4. Klein B.E.K., Klein R., Sponsel W.E. et al. Prevalence of Glaucoma. Ophthalmol. 1992;99:1499–1504. DOI: 10.1016/S0161-6420(92)31774-9
5. Shiose Y., Kitazawa Y., Tsukahara S. et al. Epidemiology of glaucoma in Japan — a nationwide glaucoma survey. Jpn J Ophthalmol. 1991;35:133–155.
6. Cho H., Kee C. Population-based glaucoma prevalence studies in Asians. Surv Ophthalmol. 2014;59:434–447. DOI: 10.1016/j.survophthal.2013.09.003
7. Bonomi L., Marchini G., Marraffa M. et al. Prevalence of glaucoma and intraocular pressure distribution in a defined population. Ophthalmol. 1998;105:209–215. DOI: 10.1016/S0161-6420(98)92665-3
8. Sommer A. Relationship Between Intraocular Pressure and Primary Open Angle Glaucoma Among White and Black Americans: The Baltimore Eye Survey. Arch Ophthalmol. 1991;109:1090. DOI: 10.1001/archopht.1991.01080080050026
9. Петров С.Ю. Современный взгляд на глаукому нормального давления. Вестник офтальмологии. 2020;136(6):57–64. DOI: 10.17116/oftalma202013606157Petrov S.Yu. Modern view on normal-tension glaucoma. Vestnik Oftalmologii. 2020;136(6):57–64 (in Russ.). DOI: 10.17116/oftalma202013606157
10. Asefa N.G., Neustaeter A., Jansonius N.M. et al. Heritability of glaucoma and glaucoma-related endophenotypes: Systematic review and meta-analysis. Surv Ophthalmol. 2019;64:835–851. DOI: 10.1016/j.survophthal.2019.06.002
11. Aboobakar I.F., Wiggs J.L. The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review. Clin Exper Ophthalmol. 2022;50:143–162. DOI: 10.1111/ceo.14035
12. Zukerman R., Harris A., Verticchio Vercellin A. et al. Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations. Genes. 2020;12:55. DOI: 10.3390/genes12010055
13. Sarfarazi M., Child A., Stoilova D. et al. Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region. Am J Human Genetics. 1998;62:641–652. DOI: 10.1086/301767
14. Chalasani M.L., Radha V., Gupta V. et al. A Glaucoma-Associated Mutant of Optineurin Selectively Induces Death of Retinal Ganglion Cells Which Is Inhibited by Antioxidants. Invest Ophthalmol Vis Sci. 2007;48:1607. DOI: 10.1167/iovs.06-0834
15. Liu Y.-H., Tian T. Hypothesis of optineurin as a new common risk factor in normal-tension glaucoma and Alzheimer's disease. Med Hypotheses. 2011;77:591–592. DOI: 10.1016/j.mehy.2011.06.040
16. Rezaie T., Child A., Hitchings R. et al. Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin. Science. 2002;295:1077–1079. DOI: 10.1126/science.1066901
17. Tang S., Toda Y., Kashiwagi K. et al. The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene. Hum Genet. 2003;113:276–279. DOI: 10.1007/s00439-003-0964-y
18. Aung T., Ocaka L., Ebenezer N.D. et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet. 2002;110:52–56. DOI: 10.1007/s00439-001-0645-7
19. Powell B.L., Toomes C., Scott S. et al. Polymorphisms in OPA1 are associated with normal tension glaucoma. Mol Vis. 2003;9:460–464.
20. Yu-Wai-Man P., Stewart J., Hudson G. et al. OPA1 increases the risk of normal but not high tension glaucoma. J Med Genet. 2010;47:120–125. DOI: 10.1136/jmg.2009.067512
21. Mabuchi F., Tang S., Kashiwagi K. et al. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. Am J Ophthalmol. 2007;143:125–130. DOI: 10.1016/j.ajo.2006.09.028
22. Golubnitschaja O., Yeghiazaryan K., Liu R. et al. Increased Expression of Matrix Metalloproteinases in Mononuclear Blood Cells of Normal-Tension Glaucoma Patients. J Glaucoma. 2004;13:66–72. DOI: 10.1097/00061198-200402000-00013
23. Григоркевич О.С., Мокров Г.В., Косова Л.Ю. Матриксные металлопротеиназы и их ингибиторы. Фармакокинетика и Фармакодинамика. 2019;(2):3–16. DOI: 10.24411/2587-7836-2019-10040Grigorkevich O.S., Mokrov G.V., Kosova L.Yu. Matrix metalloproteinases and their inhibitors. Pharmacokinetics and Pharmacodynamics. 2019;(2):3–16 (in Russ.). DOI: 10.24411/2587-7836-2019-10040
24. Кириллова М.О., Журавлева А.Н., Марахонов А.В. и др. Полиморфизмы генов, связанных с ремоделированием соединительной ткани как маркеры доклинической диагностики первичной открытоугольной глаукомы у пациентов с наследственной предрасположенностью. Медицинская генетика. 2021;20(5):26–33. DOI: 10.25557/2073-7998.2021.05.26-33Kirillova M.O., Zhuravleva A.N., Marakhonov A.V. et al. Gene polymorphisms associated with the remodeling of the connective tissue as markers of preclinical diagnosis of primary open-angle glaucoma in patients with hereditary predisposition. Medical Genetics. 2021;20(5):26–33 (in Russ.). DOI: 10.25557/2073-7998.2021.05.26-33
25. Wolf C., Gramer E., Müller-Myhsok B. et al. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC Med Genet. 2009;10:91. DOI: 10.1186/1471-2350-10-91
26. Ishikawa K., Yamamoto S., Hattori S. et al. Acquired expression of mutant Mitofusin 2 causes progressive neurodegeneration and abnormal behavior. J Neurosci. 2019;2139–2118. DOI: 10.1523/JNEUROSCI.2139-18.2018
27. Ma Y., Sun A., Zhang Y. et al. The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort. Front Neurol. 2021;12:757518. DOI: 10.3389/fneur.2021.757518
28. Guerriero S., D'Oria F., Rossetti G. et al. CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity. IMCRJ. 2020;13:41–45. DOI: 10.2147/IMCRJ.S237620
29. Zhou Z.-W., Ren X., Zheng L.-J. et al. LncRNA NEAT1 ameliorate ischemic stroke via promoting Mfn2 expression through binding to Nova and activates Sirt3. Metab Brain Dis. 2022;37:653–664. DOI: 10.1007/s11011-021-00895-1
30. Pellegrini L., Scorrano L. A cut short to death: Parl and Opa1 in the regulation of mitochondrial morphology and apoptosis. Cell Death Differ. 2007;14:1275–1284. DOI: 10.1038/sj.cdd.4402145
31. Kunová N., Havalová H., Ondrovičová G. et al. Mitochondrial Processing Peptidases—Structure, Function and the Role in Human Diseases. IJMS. 2022;23:1297. DOI: 10.3390/ijms23031297
32. Takano Y., Shi D., Shimizu A. et al. Association of Toll-like Receptor 4 Gene Polymorphisms in Japanese Subjects With Primary Open-Angle, Normal-Tension, and Exfoliation Glaucoma. Am J Ophthalmol. 2012;154:825–832.e1. DOI: 10.1016/j.ajo.2012.03.050
33. Fraenkl S.A., Golubnitschaja O., Yeghiazaryan K. et al. Differences in Gene Expression in Lymphocytes of Patients with High-tension, PEX, and Normal-tension Glaucoma and in Healthy Subjects. Eur J Ophthalmol. 2013;23:841–849. DOI: 10.5301/ejo.5000306
34. Vernazza S., Oddone F., Tirendi S. et al. Risk Factors for Retinal Ganglion Cell Distress in Glaucoma and Neuroprotective Potential Intervention. IJMS. 2021;22:7994. DOI: 10.3390/ijms22157994
35. Murakami K., Meguro A., Ota M. et al. Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma. Mol Vis. 2010;16:462–466. PMID: 20309402.
36. Chen Y., Hughes G., Chen X. et al. Genetic Variants Associated With Different Risks for High Tension Glaucoma and Normal Tension Glaucoma in a Chinese Population. Invest Ophthalmol Vis Sci. 2015;56:2595. DOI: 10.1167/iovs.14-16269
37. Ritch R., Darbro B., Menon G. et al. TBK1 Gene Duplication and Normal-Tension Glaucoma. JAMA Ophthalmol. 2014;132:544. DOI: 10.1001/jamaophthalmol.2014.104
38. Fingert J.H., Robin A.L., Stone J.L. et al. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet. 2011;20:2482–2494. DOI: 10.1093/hmg/ddr123
39. Kawase K., Allingham R.R., Meguro A. et al. Confirmation of TBK1 duplication in normal tension glaucoma. Exp Eye Res. 2012;96:178–180. DOI: 10.1016/j.exer.2011.12.021
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