Sage Journals: Discover world-class research

Abstract

Background

Emerging evidence suggested a significant association between optic atrophy 1 (OPA1) polymorphisms and primary open angle glaucoma (POAG) risk. However, the current data are inconsistent or even contradictory. Given these, we conducted a meta-analysis to examine the precise association between OPA1 polymorphisms and POAG risk.

Materials and Methods

Online databases were retrieved, and the related studies were reviewed from inception to December 1, 2022. Odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were calculated to examine the statistical power of each genetic model. In addition, heterogeneity, sensitivity, cumulative analysis, and publication bias were analyzed to guarantee statistical power.

Result

Overall, 14 studies within 11 publications (involving 2,413 POAG patients and 1,904 controls) were included and some significant association between OPA1 rs166850 C/T (T vs. C: OR = 1.24, 95%CI = 1.06–1.45, P = 0.01, I²= 39.0%; CT vs. CC: OR = 1.37, 95%CI = 1.05–1.79, P = 0.02, I²= 41.6%; CT + TT vs. CC: 1.37, 95%CI = 1.06–1.77, P = 0.02, I²= 41.6%), rs10451941T/C (TC + CC vs. TT: OR = 1.79, 95%CI = 1.41–2.28, P < 0.01, I²= 71.9%) polymorphisms and POAG susceptibility. In addition, further significant associations were also observed in the stratified analysis, especially in normal tension glaucoma groups and Caucasian descendants.

Conclusion

The observed evidences suggest that OPA1 polymorphisms may be associate with POAG susceptibility significantly.

Keywords

OPA1 primary open angle glaucoma polymorphism susceptibility

Get full access to this article

View all access options for this article.

References

Resnikoff

Pascolini

Etya'ale

, et al. Global data on visual impairment in the year 2002. Bull World Health Organ 2004; 82: 844–851.

Allison

Patel

Alabi

. Epidemiology of glaucoma: the past, present, and predictions for the future. Cureus 2020; 12: e11686.

Nestler

Kreft

Doblhammer

, et al. Progression to severe visual impairment and blindness in POAG patients: pace and risk factors-a cohort study using German health claims data. BMJ Open Ophthalmol 2022; 7: e000838.

Lešták

Pitrová

Nutterová

, et al. Normal tension vs high tension glaucoma: an - overview. Cesk Slov Oftalmol 2019; 75: 55–60.

Benitez-Del-Castillo Sánchez

Morillo-Rojas

Galbis-Estrada

, et al. Determination of inmune response and inflammation mediators in tears: changes in dry eye and glaucoma as compared to healthy controls. Arch Soc Esp Oftalmol 2017; 92: 210–217.

Alexander

Votruba

Pesch

, et al. OPA1, Encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26: 211–215.

MacVicar

Langer

. OPA1 Processing in cell death and disease - the long and short of it. J Cell Sci 2016; 129: 2297–2306.

Amati-Bonneau

Valentino

Reynier

, et al. OPA1 Mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes. Brain 2008; 131: 338–351.

Perkins

Kim

, et al. Glaucomatous optic neuropathy: mitochondrial dynamics, dysfunction and protection in retinal ganglion cells. Prog Retin Eye Res 2023; 95: 101136.

10.

Hou

Shao

Zhang

. Age-related visual impairments and retinal ganglion cells axonal degeneration in a mouse model harboring OPTN (E50 K) mutation. Cell Death Dis 2022; 13: 362.

11.

Zeng

Wang

, et al. Mitochondria and autophagy dysfunction in glucocorticoid-induced ocular hypertension/glaucoma mice model. Curr Eye Res 2020; 45: 190–198.

12.

Moher

Liberati

Tetzlaff

, et al. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med 2009; 6: e1000097.

13.

Aung

Ocaka

Ebenezer

, et al. A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet 2002; 110: 52–56.

14.

Powell

Toomes

Scott

, et al. Polymorphisms in OPA1 are associated with normal tension glaucoma. Mol Vis 2003; 9: 460–464.

15.

Woo

Kim

, et al. Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea. J Glaucoma 2004; 13: 492–495.

16.

Yao

Jiao

Hejtmancik

, et al. Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families. Mol Vis 2006; 12: 649–654.

17.

Liu

Schmidt

Qin

, et al. No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations. Mol Vis 2007; 13: 2137–2141.

18.

Mabuchi

Tang

Kashiwagi

, et al. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. Am J Ophthalmol 2007; 143: 125–130.e2.

19.

Yu-Wai-Man

Stewart

Hudson

, et al. OPA1 Increases the risk of normal but not high tension glaucoma. J Med Genet 2010; 47: 120–125.

20.

Fan

Liu

Wang

, et al. Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2010; 51: 4110–4116.

21.

Buentello-Volante

Elizondo-Olascoaga

Miranda-Duarte

, et al. Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population. Exp Eye Res 2013; 107: 59–64.

22.

Lavaris

Gazouli

Brouzas

, et al. Polymorphism analysis of GSTM1 and OPA1 genes in Greek patients with primary open-angle glaucoma. In Vivo 2016; 30: 473–477.

23.

Milanowski

Kosior-Jarecka

. Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry. Ophthalmic Genet 2022; 43: 42–47.

24.

Alavi

Fuhrmann

. Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics. Mol Neurodegener 2013; 8: 32.

25.

Wang

Fann

, et al. OPA1 Expression in the human retina and optic nerve. Exp Eye Res 2006; 83: 1171–1178.

26.

Shu

Huang

, et al. OPA1 And MICOS regulate mitochondrial crista dynamics and formation. Cell Death Dis 2020; 11: 940.

27.

Noone

O'Gorman

Kenny

. OPA1 Regulation of mitochondrial dynamics in skeletal and cardiac muscle. Trends Endocrinol Metab 2022; 33: 710–721.

28.

Lee

Smith

Sheu

. The short variant of optic atrophy 1 (OPA1) improves cell survival under oxidative stress. J Biol Chem 2020; 295: 6543–6560.

29.

Duvezin-Caubet

Jagasia

Wagener

, et al. Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology. J Biol Chem 2006; 281: 37972–37979.

30.

Dai

Zhang

, et al. Overexpression of optic atrophy type 1 protects retinal ganglion cells and upregulates parkin expression in experimental glaucoma. Front Mol Neurosci 2018; 11: 350.

31.

Guo

Chen

Zhang

, et al. Association of OPA1 polymorphisms with NTG and HTG: a meta-analysis. PLoS One 2012; 7: e42387.

Supplementary Material

Please find the following supplemental material available below.

For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.

For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.

0.00 MB

0.10 MB

Association between optic atrophy 1 polymorphisms and primary open angle glaucoma risk: Based on a meta-analysis

Abstract

Background

Materials and Methods

Result

Conclusion

Keywords

Get full access to this article

References

Supplementary Material