Massachusetts Eye and Ear Infirmary, 243 Charles Street, 12th floor, Boston, MA, 02114, USA.
Curr Diab Rep. 2014 Aug;14(8):515. doi: 10.1007/s11892-014-0515-z.
Diabetic retinopathy (DR) is a polygenic disorder. Twin studies and familial aggregation studies have documented clear familial clustering. Heritability has been estimated to be as high as 27 % for any DR and 52 % for proliferative diabetic retinopathy (PDR), an advanced form of the disease. Linkage analyses, candidate gene association studies and genome-wide association studies (GWAS) performed to date have not identified any widely reproducible risk loci for DR. Combined analysis of the data from multiple GWAS is emerging as an important next step to explain the unaccounted heritability. Key factors to future discovery of the genetic underpinnings of DR are precise DR ascertainment, a focus on the more heritable disease forms such as PDR, stringent selection of control participants with regards to duration of diabetes, and methods that allow combination of existing datasets from different ethnicities to achieve sufficient sample sizes to detect variants with modest effect sizes.
糖尿病性视网膜病变（DR）是一种多基因疾病。双胞胎研究和家族聚集研究已经证明了明显的家族聚集性。DR 的遗传率估计高达 27%，增殖性糖尿病性视网膜病变（PDR）的遗传率高达 52%，PDR 是该病的一种晚期形式。迄今为止进行的连锁分析、候选基因关联研究和全基因组关联研究（GWAS）尚未发现任何可广泛重复的 DR 风险基因座。对来自多个 GWAS 的数据进行综合分析，是解释未被解释的遗传率的重要下一步。未来发现 DR 遗传基础的关键因素是对 DR 进行精确的确定、关注更具遗传性的疾病形式，如 PDR、对糖尿病持续时间的控制参与者进行严格选择，以及采用允许结合不同种族的现有数据集的方法，以实现足够的样本量来检测具有适度效应大小的变异。
