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Update on genetics and diabetic retinopathy

Authors Hampton B, Schwartz S, Brantley Jr M, Flynn Jr H

Received 15 August 2015

Accepted for publication 3 October 2015

Published 23 November 2015 Volume 2015:9 Pages 2175—2193

DOI https://doi.org/10.2147/OPTH.S94508

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Gokcen Gökçe

Peer reviewer comments 3

Editor who approved publication: Dr Scott Fraser


Blake M Hampton,1 Stephen G Schwartz,1 Milam A Brantley Jr,2 Harry W Flynn Jr1

1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Ophthalmology, Vanderbilt Eye Institute, Nashville, TN, USA

Abstract: Clinical risk factors for diabetic retinopathy (DR), such as duration of disease and degree of glucose control, do not adequately predict disease progression in individual patients, suggesting the presence of a genetic component. Multiple smaller studies have investigated genotype–phenotype correlations in genes encoding vascular endothelial growth factor, aldose reductase, the receptor for advanced glycation end products, and many others. In general, reported results have been conflicting, due to factors including small sample sizes, variations in study design, differences in clinical end points, and underlying genetic differences between study groups. At this time, there is no confirmed association with any risk allele reported. As we continue to collect data from additional studies, the role of genetics in DR may become more apparent.

Keywords: diabetic retinopathy, genetics, single nucleotide polymorphism, genome-wide association study

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