Identifying Genetic Risk Factors for Diabetic Macular Edema and the Response to Treatment

Overview

Journal J Diabetes Res

Publisher Wiley

Specialty Endocrinology

Date 2020 Dec 4

PMID 33274237

Citations 6

Authors

Rajya L Gurung

Liesel M FitzGerald

Bennet J McComish

Nitin Verma

Kathryn P Burdon

Affiliations

Soon will be listed here.

Abstract

Diabetic retinopathy (DR) is the most common microvascular complication of diabetes mellitus (DM). DR is complex and the term encompasses several clinical subtypes of diabetic eye disease, including diabetic macular edema (DME), the most frequent cause of central vision loss in DR patients. Both genetic and environmental factors contribute to the pathophysiology of DR and its subtypes. While numerous studies have identified several susceptibility genes for DR, few have investigated the impact of genetics on DME susceptibility. This review will focus on the current literature surrounding genetic risk factors associated with DME. We will also highlight the small number of studies investigating the genetics of response to antivascular endothelial growth factor (anti-VEGF) injection, which is used to treat DME.

Citing Articles

Oxidative Stress Mediates Epigenetic Modifications and the Expression of miRNAs and Genes Related to Apoptosis in Diabetic Retinopathy Patients.

Karam-Palos S, Andres-Blasco I, Campos-Borges C, Zanon-Moreno V, Gallego-Martinez A, Alegre-Ituarte V J Clin Med. 2024; 13(1).

PMID: 38202081 PMC: 10780047. DOI: 10.3390/jcm13010074.

Anatomical and Functional Effects of an Oral Supplementation of Bromelain and Curcugreen in Patients with Focal Diabetic Macular Edema.

Carnevali A, Vaccaro S, Borselli M, Bousyf S, Lamonica L, Randazzo G J Clin Med. 2023; 12(23).

PMID: 38068370 PMC: 10707283. DOI: 10.3390/jcm12237318.

AAV-Based Strategies for Treatment of Retinal and Choroidal Vascular Diseases: Advances in Age-Related Macular Degeneration and Diabetic Retinopathy Therapies.

Castro B, Steel J, Layton C BioDrugs. 2023; 38(1):73-93.

PMID: 37878215 PMC: 10789843. DOI: 10.1007/s40259-023-00629-y.

Genome-wide association study of the response of patients with diabetic macular edema to intravitreal Anti-VEGF injection.

Hong E, Yeom H, Yu H, Park J, Shin Y, Bang S Sci Rep. 2022; 12(1):22527.

PMID: 36581632 PMC: 9800359. DOI: 10.1038/s41598-022-26048-7.

Association of polymorphisms in the erythropoietin gene with diabetic retinopathy: a case-control study and systematic review with meta-analysis.

Sesti L, Sbruzzi R, Polina E, Soares D, Crispim D, Canani L BMC Ophthalmol. 2022; 22(1):250.

PMID: 35659624 PMC: 9167513. DOI: 10.1186/s12886-022-02467-y.

References

Puddu A, Sanguineti R, Durante A, Nicolo M, Viviani G . Vascular endothelial growth factor-C secretion is increased by advanced glycation end-products: possible implication in ocular neovascularization. Mol Vis. 2012; 18:2509-17. PMC: 3482173. View

Abhary S, Burdon K, Gupta A, Lake S, Selva D, Petrovsky N . Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy. Invest Ophthalmol Vis Sci. 2009; 50(12):5552-8. DOI: 10.1167/iovs.09-3694. View

Zhang C, Xie H, Yang Q, Yang Y, Li W, Tian H . Erythropoietin protects outer blood-retinal barrier in experimental diabetic retinopathy by up-regulating ZO-1 and occludin. Clin Exp Ophthalmol. 2019; 47(9):1182-1197. DOI: 10.1111/ceo.13619. View

Uthra S, Raman R, Mukesh B, Rajkumar S, Kumari P, Lakshmipathy P . Protein kinase C beta (PRKCB1) and pigment epithelium derived factor (PEDF) gene polymorphisms and diabetic retinopathy in a south Indian cohort. Ophthalmic Genet. 2010; 31(1):18-23. DOI: 10.3109/13816810903426231. View

Cao Y, Linden P, Farnebo J, Cao R, Eriksson A, Kumar V . Vascular endothelial growth factor C induces angiogenesis in vivo. Proc Natl Acad Sci U S A. 1998; 95(24):14389-94. PMC: 24383. DOI: 10.1073/pnas.95.24.14389. View

Tong Z, Yang Z, Patel S, Chen H, Gibbs D, Yang X . Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A. 2008; 105(19):6998-7003. PMC: 2383970. DOI: 10.1073/pnas.0800454105. View

Shirley Ding S, Leow S, Munisvaradass R, Koh E, Bastion M, Then K . Revisiting the role of erythropoietin for treatment of ocular disorders. Eye (Lond). 2016; 30(10):1293-1309. PMC: 5129866. DOI: 10.1038/eye.2016.94. View

Calderon G, Juarez O, Hernandez G, Punzo S, De la Cruz Z . Oxidative stress and diabetic retinopathy: development and treatment. Eye (Lond). 2017; 31(8):1122-1130. PMC: 5558229. DOI: 10.1038/eye.2017.64. View

. Grading diabetic retinopathy from stereoscopic color fundus photographs--an extension of the modified Airlie House classification. ETDRS report number 10. Early Treatment Diabetic Retinopathy Study Research Group. Ophthalmology. 1991; 98(5 Suppl):786-806. View

10.

Maj E, Papiernik D, Wietrzyk J . Antiangiogenic cancer treatment: The great discovery and greater complexity (Review). Int J Oncol. 2016; 49(5):1773-1784. PMC: 5063425. DOI: 10.3892/ijo.2016.3709. View

11.

Visscher P, Wray N, Zhang Q, Sklar P, McCarthy M, Brown M . 10 Years of GWAS Discovery: Biology, Function, and Translation. Am J Hum Genet. 2017; 101(1):5-22. PMC: 5501872. DOI: 10.1016/j.ajhg.2017.06.005. View

12.

. Photocoagulation for diabetic macular edema. Early Treatment Diabetic Retinopathy Study report number 1. Early Treatment Diabetic Retinopathy Study research group. Arch Ophthalmol. 1985; 103(12):1796-806. View

13.

Santos A, Salguero M, Gurrola C, Munoz F, Roig-Melo E, Panduro A . The epsilon4 allele of apolipoprotein E gene is a potential risk factor for the severity of macular edema in type 2 diabetic Mexican patients. Ophthalmic Genet. 2002; 23(1):13-9. DOI: 10.1076/opge.23.1.13.2203. View

14.

El-Shazly S, El-Bradey M, Tameesh M . Vascular endothelial growth factor gene polymorphism prevalence in patients with diabetic macular oedema and its correlation with anti-vascular endothelial growth factor treatment outcomes. Clin Exp Ophthalmol. 2013; 42(4):369-78. DOI: 10.1111/ceo.12182. View

15.

Takahashi H, Shibuya M . The vascular endothelial growth factor (VEGF)/VEGF receptor system and its role under physiological and pathological conditions. Clin Sci (Lond). 2005; 109(3):227-41. DOI: 10.1042/CS20040370. View

16.

Ashraf M, Souka A, Adelman R . Predicting outcomes to anti-vascular endothelial growth factor (VEGF) therapy in diabetic macular oedema: a review of the literature. Br J Ophthalmol. 2016; 100(12):1596-1604. DOI: 10.1136/bjophthalmol-2016-308388. View

17.

Reddy G, Satyanarayana A, Balakrishna N, Ayyagari R, Padma M, Viswanath K . Erythrocyte aldose reductase activity and sorbitol levels in diabetic retinopathy. Mol Vis. 2008; 14:593-601. PMC: 2275210. View

18.

Xu H, Zhang L, Gu L, Lu L, Gao G, Li W . Subretinal delivery of AAV2-mediated human erythropoietin gene is protective and safe in experimental diabetic retinopathy. Invest Ophthalmol Vis Sci. 2014; 55(3):1519-30. DOI: 10.1167/iovs.13-13155. View

19.

Duh E, Yang H, Suzuma I, Miyagi M, Youngman E, Mori K . Pigment epithelium-derived factor suppresses ischemia-induced retinal neovascularization and VEGF-induced migration and growth. Invest Ophthalmol Vis Sci. 2002; 43(3):821-9. View

20.

Chun M, Hwang H, Cho H, Chun H, Woo J, Lee K . Association of vascular endothelial growth factor polymorphisms with nonproliferative and proliferative diabetic retinopathy. J Clin Endocrinol Metab. 2010; 95(7):3547-51. DOI: 10.1210/jc.2009-2719. View