School of Medicine, University of California San Diego, La Jolla, San Diego, CA, USA.
Shiley Eye Institute, Andrew Viterbi Department of Ophthalmology, University of California San Diego, 9415 Campus Point Dr, La Jolla, San Diego, CA, 92093, USA.
Curr Diab Rep. 2019 Jul 29;19(9):67. doi: 10.1007/s11892-019-1186-6.
The goal of this paper is to review the latest findings in understanding the genetics of diabetic retinopathy. We highlight recent literature using a variety of molecular genetic techniques to identify variants which contribute to genetic susceptibility for diabetic retinopathy.
New genome-wide association study (GWAS) and whole-exome sequencing approaches have been utilized to identify both common and rare variants associated with diabetic retinopathy. While variants have been identified in isolated studies, no variants have been replicated across multiple studies. The identification of genetic factors associated with diabetic retinopathy remains elusive. This is due to the multifactorial nature of the disease, small sample sizes for GWAS, and difficulty in controlling covariates of the disease. Larger populations as well as utilization of new sequencing and data analysis techniques may lead to new insights into genetic factors associated with diabetic retinopathy in the future.
本文旨在综述理解糖尿病性视网膜病变遗传学的最新发现。我们使用各种分子遗传学技术，突出最新文献，以确定导致糖尿病性视网膜病变遗传易感性的变异。
新的全基因组关联研究（GWAS）和全外显子组测序方法已被用于鉴定与糖尿病性视网膜病变相关的常见和罕见变异。虽然在个别研究中已经确定了变异，但没有变异在多个研究中得到复制。与糖尿病性视网膜病变相关的遗传因素的鉴定仍然难以捉摸。这是由于疾病的多因素性质、GWAS 的样本量小以及难以控制疾病的协变量。更大的人群以及新的测序和数据分析技术的利用可能会为未来与糖尿病性视网膜病变相关的遗传因素提供新的见解。
