Department of Endocrinology and Metabolism, Shanghai Tongji Hospital, Tongji University School of Medicine, Room 517 Building 2nd, NO. 389 Xincun Road, Shanghai, 200063, China,
J Endocrinol Invest. 2014 Dec;37(12):1165-74. doi: 10.1007/s40618-014-0172-8. Epub 2014 Sep 9.
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.
有证据表明，遗传因素导致糖尿病视网膜病变（DR）的发生风险。遗传变异、结构变异（拷贝数变异，CNV）和表观遗传变化在 DR 的发生发展中发挥重要作用。遗传连锁和关联研究已经发现了一些与 DR 相关的遗传位点和常见遗传变异。通过关联分析还发现了 CNV 和基因-环境相互作用。除核基因组外，线粒体 DNA 在调控 DR 的发生发展中也起着关键作用。表观遗传研究表明，染色质的表观遗传变化影响基因转录以应对环境刺激，这为调节糖尿病发生发展的机制提供了大量证据。鉴定与 DR 的风险或保护相关的遗传变异和表观遗传变化将有助于揭示 DR 的复杂机制。本综述重点介绍了 DR 的遗传和表观遗传基础的最新知识。
