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Journal of Endocrinological Investigation

Published in:

01-12-2014 | Review

Human genetics of diabetic retinopathy

Authors: Z.-H. Tang, L. Wang, F. Zeng, K. Zhang

Published in: Journal of Endocrinological Investigation | Issue 12/2014

Abstract

There is evidence demonstrating that genetic factors contribute to the risk of diabetic retinopathy (DR). Genetics variants, structural variants (copy number variation, CNV) and epigenetic changes play important roles in the development of DR. Genetic linkage and association studies have uncovered a number of genetic loci and common genetic variants susceptibility to DR. CNV and interactions of gene by environment have also been detected by association analysis. Apart from nucleus genome, mitochondrial DNA plays critical roles in regulation of development of DR. Epigenetic studies have indicated epigenetic changes in chromatin affecting gene transcription in response to environmental stimuli, which provided a large body of evidence of regulating development of diabetes mellitus. Identification of genetic variants and epigenetic changes contributed to risk or protection of DR will benefit uncovering the complex mechanism underlying DR. This review focused on the current knowledge of the genetic and epigenetic basis of DR.

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Title: Human genetics of diabetic retinopathy
Authors: Z.-H. Tang
L. Wang
F. Zeng
K. Zhang
Publication date: 01-12-2014
Publisher: Springer International Publishing
Published in: Journal of Endocrinological Investigation / Issue 12/2014
Electronic ISSN: 1720-8386
DOI: https://doi.org/10.1007/s40618-014-0172-8

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