Top

BMC Ophthalmology

Published in:

Open Access 01-12-2016 | Research article

Association between polymorphisms of OGG1, EPHA2 and age-related cataract risk: a meta-analysis

Authors: Hongxu Zhang, Jianguang Zhong, Zhenyu Bian, Xiang Fang, You Peng, Yongping Hu

Published in: BMC Ophthalmology | Issue 1/2016

Abstract

Background

Evidences have identified the correlation of 8-oxoguanine DNA glycosylase-1 (OGG1) and eph-receptor tyrosine kinase-type A2 (EPHA2) polymorphisms in age-related cataract (ARC) risk. However, the results were not consistent. The objective of this study was to examine the role of these two gene polymorphisms in ARC susceptibility.

Methods

Eligible case–control studies published between January 2000 and 2015 were searched and retrieved in the electronic databases. The odds ratio with 95 % confidence interval (CI) was employed to calculate the strength of the relationship.

Results

We totally screened out six articles, including 5971 cataract patients and 4189 matched controls. Three variants were contained (OGG1 rs1052133; EPHA2 rs7543472 and rs11260867). For OGG1 rs1052133, we detected a significant correlation between OGG1 polymorphism and ARC risk under the heterogenous model (CG vs. CC: OR = 1.34, 95 % CI = 1.06–1.70, P = 0.01) and dominant model (GG+CG vs. CC: OR = 1.45, 95 % CI = 1.16–1.81, P = 0.001), especially in patients with cortical cataract of subgroup analysis by phenotypes (P < 0.05). For EPHA2 rs7543472 and rs11260867, we did not find a positive association between these two mutations and ARC susceptibility in total cases. Subgroup analysis by phenotypes of cataract showed that only in cortical cataract, genotypes of rs7543472 under the allele model, homogenous model and recessive model; genotypes of rs11260867 under the heterogenous model and dominant model were associated with ARC risk.

Conclusions

OGG1 rs1052133 (CG and CG+GG genotypes) might be risk factor for ARC, particularly in cortical cataract risk. EPHA2 rs7543472 (T allele and TT genotype) and rs11260867 (CG and GG+CG genotypes) might be associated with cortical cataract.

Javitt JC, Wang F, West SK. Blindness due to cataract: epidemiology and prevention. Annu Rev Public Health. 1996;17(1):159–77.CrossRefPubMed

Pascolini D, Mariotti SP. Global estimates of visual impairment: 2010. Br J Ophthalmol. 2011:bjophthalmol-2011-300539

Storey P, Munoz B, Friedman D, West S. Racial differences in lens opacity incidence and progression: the Salisbury Eye Evaluation (SEE) study. Invest Ophthalmol Vis Sci. 2013;54:3010–8.CrossRefPubMedPubMedCentral

Gunnlaugsdottir E, Arnarsson A, Jonasson F. Five‐year incidence of visual impairment and blindness in older Icelanders: the Reykjavik Eye Study. Acta Ophthalmol. 2010;88(3):358–66.CrossRefPubMed

Chua J, Koh JY, Tan AG, Zhao W, Lamoureux E, Mitchell P, Wang JJ, Wong TY, Cheng C-Y. Ancestry, socioeconomic status, and age-related cataract in Asians: the Singapore Epidemiology of Eye Diseases study. Ophthalmology. 2015;122(11):2169–78.CrossRefPubMed

Klein R, Klein BE. The prevalence of age-related eye diseases and visual impairment in aging: current estimates. Invest Ophthalmol Vis Sci. 2013;54(14):ORSF5

Virgolici B, Popescu L. [Risk factors in cataract]. Oftalmologia (Bucharest, Romania: 1990). 2005;50(2):3–9.

Daien V, Le Pape A, Heve D, Carriere I, Villain M. Incidence, risk factors, and impact of age on retinal detachment after cataract surgery in France: a national population study. Ophthalmology. 2015;122(11):2179–85.CrossRefPubMed

West S. Epidemiology of cataract: accomplishments over 25 years and future directions. Ophthalmic Epidemiol. 2007;14(4):173–8.CrossRefPubMed

10.

Domalpally A, Danis RP, Chew EY, Clemons TE, Reed S, SanGiovanni JP, Ferris III FL. Evaluation of optimized digital fundus reflex photographs for lens opacities in the age-related eye disease study 2: AREDS2 report 7. Invest Ophthalmol Vis Sci. 2013;54(9):5989.CrossRefPubMedPubMedCentral

11.

Goldman HB, Kiffel S, Weinstock FJ. Cataract surgery and the primary care practitioner. Geriatrics. 2009;64(5):19–22. 25–16.PubMed

12.

Shiels A, Hejtmancik J. Genetics of human cataract. Clin Genet. 2013;84(2):120–7.CrossRefPubMedPubMedCentral

13.

Smith TB, Dun MD, Smith ND, Curry BJ, Connaughton HS, Aitken RJ. The presence of a truncated base excision repair pathway in human spermatozoa that is mediated by OGG1. J Cell Sci. 2013;126(6):1488–97.CrossRefPubMed

14.

Yuzefovych LV, Kahn AG, Schuler MA, Eide L, Arora R, Wilson GL, Tan M, Rachek LI. Mitochondrial DNA repair through OGG1 activity attenuates breast cancer progression and metastasis. Cancer Res. 2015:canres. 0692.2015

15.

Donley N, Jaruga P, Coskun E, Dizdaroglu M, McCullough AK, Lloyd RS. Small molecule inhibitors of 8-oxoguanine DNA glycosylase-1 (OGG1). ACS Chem Biol. 2015;10(10):2334–43.CrossRefPubMedPubMedCentral

16.

Selin JZ, Lindblad BE, Rautiainen S, Michaëlsson K, Morgenstern R, Bottai M, Basu S, Wolk A. Are increased levels of systemic oxidative stress and inflammation associated with age-related cataract? Antioxid Redox Signal. 2014;21(5):700–4.CrossRefPubMed

17.

Kohno T, Shinmura K, Tosaka M, Tani M, Kim S-R, Sugimura H, Nohmi T, Kasai H, Yokota J. Genetic polymorphisms and alternative splicing of the hOGG1 gene, that is involved in the repair of 8-hydroxyguanine in damaged DNA. Oncogene. 1998;16(25):3219–25.CrossRefPubMed

18.

Simonelli V, Camerini S, Mazzei F, Van Loon B, Allione A, D’Errico M, Barone F, Minoprio A, Ricceri F, Guarrera S. Genotype–phenotype analysis of S326C OGG1 polymorphism: a risk factor for oxidative pathologies. Free Radic Biol Med. 2013;63:401–9.CrossRefPubMed

19.

Son AI, Park JE, Zhou R. The role of Eph receptors in lens function and disease. Science China Life Sciences. 2012;55(5):434–44.CrossRefPubMedPubMedCentral

20.

Koshikawa N, Hoshino D, Taniguchi H, Minegishi T, Tomari T, Nam S-O, Aoki M, Sueta T, Nakagawa T, Miyamoto S. Proteolysis of EphA2 converts it from a tumor suppressor to an oncoprotein. Cancer Res. 2015;75(16):3327–39.CrossRefPubMedPubMedCentral

21.

Borthakur S, Lee H, Kim S, Wang B-C, Buck M. Binding and function of phosphotyrosines of the Ephrin A2 (EphA2) receptor using synthetic Sterile α Motif (SAM) domains. J Biol Chem. 2014;289(28):19694–703.CrossRefPubMedPubMedCentral

22.

Barquilla A, Pasquale EB. Eph receptors and ephrins: therapeutic opportunities. Annu Rev Pharmacol Toxicol. 2015;55:465–87.CrossRefPubMed

23.

Tandon M, Vemula SV, Mittal SK. Emerging strategies for EphA2 receptor targeting for cancer therapeutics. Expert Opin Ther Targets. 2011;15(1):31–51.CrossRefPubMedPubMedCentral

24.

Jun G, Guo H, Klein B, Klein R, Wang JJ, Mitchell P, Miao H, Lee KE, Joshi T, Buck M. EPHA2 is associated with age-related cortical cataract in mice and humans. PLoS Genet. 2009;5(7):e1000584.CrossRefPubMedPubMedCentral

25.

Tan W, Hou S, Jiang Z, Hu Z, Yang P, Ye J. Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population. Mol Vis. 2011;17:1553.PubMedPubMedCentral

26.

Park JE, Son AI, Hua R, Wang L, Zhang X, Zhou R. Human cataract mutations in EPHA2 SAM domain alter receptor stability and function. PLoS One. 2012;7(5):e36564.CrossRefPubMedPubMedCentral

27.

Yang J, Luo J, Zhou P, Fan Q, Luo Y, Lu Y. Association of the ephreceptor tyrosinekinase-type A2 (EPHA2) gene polymorphism rs3754334 with age-related cataract risk: a meta-analysis. PLoS One. 2013;8(8):e71003.

28.

Chylack LT, Wolfe JK, Singer DM, Leske MC, Bullimore MA, Bailey IL, Friend J, McCarthy D, Wu S-Y. The lens opacities classification system III. Arch Ophthalmol. 1993;111(6):831–6.CrossRefPubMed

29.

Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF. The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis. 2008;14:2042.PubMedPubMedCentral

30.

Sundaresan P, Ravindran RD, Vashist P, Shanker A, Nitsch D, Talwar B, Maraini G, Camparini M, Nonyane BAS, Smeeth L. EPHA2 polymorphisms and age-related cataract in India. 2012.

31.

Zhang Y, Zhang L, Song Z, Sun DL, Liu HR, Fu SB, Liu DR, Liu P. Genetic polymorphisms in DNA repair genes OGG1, APE1, XRCC1, and XPD and the risk of age-related cataract. Ophthalmology. 2012;119(5):900–6.CrossRefPubMed

32.

Jiang S, Hu N, Zhou J, Zhang J, Gao R, Hu J, Guan H. Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-elated cataract in a Han Chinese population. Age. 2013;35(6):2435–44.

33.

Celojevic D, Abramsson A, Seibt Palmér M, Tasa G, Juronen E, Zetterberg H, Zetterberg M. EPHA2 polymorphisms in Estonian patients with age-related cataract. Ophthalmic Genet. 2014(0):1–5

34.

Gharib AF, Dabour SA, Etewa RL, Fouad RA. Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in Egyptians. Mol Vis. 2014;20:661.PubMedPubMedCentral

35.

Laroche L. Actuality in cataract treatment. La Revue du praticien. 2013;63(1):43–7.PubMed

36.

Lin H, Chen W, Luo L, Congdon N, Zhang X, Zhong X, Liu Z, Chen W, Wu C, Zheng D. Effectiveness of a short message reminder in increasing compliance with pediatric cataract treatment: a randomized trial. Ophthalmology. 2012;119(12):2463–70.CrossRefPubMed

37.

Boyd S. Preoperative selection for cataract surgery. Recent Trends in Cataract Management. 2013;1:1.

38.

Gu A, Ji G, Yan L, Zhou Y. The 8-oxoguanine DNA glycosylase 1 (ogg1) decreases the vulnerability of the developing brain to DNA damage. DNA Repair. 2013;12(12):1094–104.CrossRefPubMed

39.

Scott TL, Rangaswamy S, Wicker CA, Izumi T. Repair of oxidative DNA damage and cancer: recent progress in DNA base excision repair. Antioxid Redox Signal. 2014;20(4):708–26.CrossRefPubMedPubMedCentral

40.

Kang L, Zhao W, Zhang G, Wu J, Guan H. Acetylated 8-oxoguanine DNA glycosylase 1 and its relationship with p300 and SIRT1 in lens epithelium cells from age-related cataract. Exp Eye Res. 2015;135:102–8.CrossRefPubMed

41.

Xu B, Kang L, Zhang G, Wu J, Zhu R, Yang M, Guan H. The changes of 8-OHdG, hOGG1, APE1 and Pol β in lenses of patients with age-related cataract. Curr Eye Res. 2014;40(4):378–85.CrossRefPubMed

42.

Wang Y, Li F, Zhang G, Kang L, Qin B, Guan H. Altered DNA methylation and expression profiles of 8-oxoguanine DNA glycosylase 1 in lens tissue from age-related cataract patients. Curr Eye Res. 2014(0):1–7

43.

Kershaw RM, Hodges NJ. Repair of oxidative DNA damage is delayed in the Ser326Cys polymorphic variant of the base excision repair protein OGG1. Mutagenesis. 2012:ges012

44.

Ali K, Mahjabeen I, Sabir M, Mehmood H, Kayani MA. OGG1 mutations and risk of female breast cancer: meta-analysis and experimental data. Dis Markers. 2015;2015.

45.

Su S, Yao Y, Zhu R, Liang C, Jiang S, Hu N, Zhou J, Yang M, Xing Q, Guan H. The associations between single nucleotide polymorphisms of DNA repair genes, DNA damage, and age-related cataract: Jiangsu Eye Study. Invest Ophthalmol Vis Sci. 2013;54(2):1201–7.CrossRefPubMed

46.

Mori T, Wanaka A, Taguchi A, Matsumoto K, Tohyama M. Differential expressions of the eph family of receptor tyrosine kinase genes (sek, elk, eck) in the developing nervous system of the mouse. Mol Brain Res. 1995;29(2):325–35.CrossRefPubMed

47.

Petty A, Myshkin E, Qin H, Guo H, Miao H, Tochtrop GP, Hsieh J-T, Page P, Liu L, Lindner DJ. A small molecule agonist of EphA2 receptor tyrosine kinase inhibits tumor cell migration in vitro and prostate cancer metastasis in vivo. PLoS One. 2012;7(8):e42120.CrossRefPubMedPubMedCentral

48.

Kinch MS, Zantek ND, Hein PW. EPHA2 as a therapeutic target for cancer. In: Google Patents; 2013

49.

Xiao Z, Jackson D, Tice DA. EphA2 Immunoconjugate. In: Antibody-Drug Conjugates and Immunotoxins. Springer; 2013. p 241–253

50.

Dunne PD, McArt DG, Blayney JK, Dasgupta S, Salto-Tellez M, Johnston PG, Van Schaeybroeck S. EpHA2 is an essential driver of invasion and a novel target in KRAS mutant colorectal cancer. Cancer Res. 2014;74(19 Supplement):2079.CrossRef

51.

Kato K, Sakamoto A, Kojima T, Hasegawa T, Ikeda S. An agonistic antibody to EphA2 exhibits anti-tumor effect to human melanoma. Cancer Res. 2015;75(15 Supplement):1676.CrossRef

52.

Yang J, Li D, Fan Q, Cai L, Qiu X, Zhou P, Lu Y. The polymorphisms with cataract susceptibility impair the EPHA2 receptor stability and its cytoprotective function. J Ophthalmol. 2015;2015.

53.

Bassnett S, Wilmarth PA, David LL. The membrane proteome of the mouse lens fiber cell. Mol Vis. 2009;15:2448.PubMedPubMedCentral

54.

Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT. Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat. 2009;30(5):E603–11.CrossRefPubMed

55.

Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF. Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis. 2010;16:511.PubMedPubMedCentral

56.

Dave A, Laurie K, Staffieri SE, Taranath D, Mackey DA, Mitchell P, Wang JJ, Craig JE, Burdon KP, Sharma S. Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. PLoS One. 2013;8(8):e72518.CrossRefPubMedPubMedCentral

Title: Association between polymorphisms of OGG1, EPHA2 and age-related cataract risk: a meta-analysis
Authors: Hongxu Zhang
Jianguang Zhong
Zhenyu Bian
Xiang Fang
You Peng
Yongping Hu
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: BMC Ophthalmology / Issue 1/2016
Electronic ISSN: 1471-2415
DOI: https://doi.org/10.1186/s12886-016-0341-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Association between polymorphisms of OGG1, EPHA2 and age-related cataract risk: a meta-analysis

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2016

Partial thickness corneal tissue as a patch graft material for prevention of glaucoma drainage device exposure

Peripapillary gamma zone pit as dehiscence between Elschnig´s border tissue and Bruch´s membrane with herniation and defect of the retinal nerve fiber layer

Delayed-onset descemet membrane detachment after uneventful cataract surgery treated by corneal venting incision with air tamponade: a case report

Recurrent pseudohypopyon in association with primary vitreoretinal lymphoma: a case report

Worldwide Argus II implantation: recommendations to optimize patient outcomes

Use of flucinolone acetonide for patients with diabetic macular oedema: patient selection criteria and early outcomes in real world setting