Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia.
Clin Exp Ophthalmol. 2014 Jul;42(5):486-93. doi: 10.1111/ceo.12239. Epub 2013 Oct 28.
Diabetic retinopathy (DR) is a blinding disease of increasing prevalence that is caused by a complex interplay of genetic and environmental factors. Here we describe the patient recruitment methodology, case and control definitions, and clinical characteristics of a study sample to be used for genome-wide association analysis to detect genetic risk variants of DR.
One thousand six hundred sixty-nine participants with either type 1 (T1) or type 2 (T2) diabetes mellitus (DM) aged 18 to 95 years were recruited in Australian hospital clinics. Individuals with T2DM had disease duration of at least 5 years and were taking oral hypoglycaemic medication, and/or insulin therapy. Participants underwent ophthalmic examination. Medical history and biochemistry results were collected. Venous blood was obtained for genetic analysis.
Six hundred eighty-three diabetic cases (178 T1DM and 505 T2DM participants) with sight-threatening DR, defined as severe non-proliferative DR, proliferative DR or diabetic macular oedema were included in this analysis. Eight hundred twelve individuals with DM but no DR or minimal non-proliferative DR were recruited as controls (191 with T1DM and 621 with T2DM). The presence of sight-threatening DR was significantly correlated with DM duration, hypertension, nephropathy, neuropathy, HbA1C and body mass index. Diabetic macular oedema was associated with T2DM (P < 0.001), whereas proliferative DR was associated with T1DM (P < 0.001).
Adoption of a case-control study design involving extremes of the DR phenotype makes this a suitable cohort, for a well-powered genome-wide association study to detect genetic risk variants for DR.
糖尿病视网膜病变（DR）是一种发病率不断上升的致盲性疾病，由遗传和环境因素的复杂相互作用引起。在这里，我们描述了一项全基因组关联分析研究的患者招募方法、病例和对照定义以及临床特征，旨在检测 DR 的遗传风险变异。
我们招募了 1669 名年龄在 18 至 95 岁之间的 1 型（T1）或 2 型（T2）糖尿病患者，他们分别来自澳大利亚医院的诊所。T2DM 患者的疾病持续时间至少为 5 年，且正在服用口服降糖药和/或胰岛素治疗。参与者接受眼科检查。收集病史和生化结果。采集静脉血进行基因分析。
在这项分析中，共纳入了 683 例有威胁视力的 DR 患者（178 例 T1DM 和 505 例 T2DM 患者），DR 定义为严重非增殖性 DR、增殖性 DR 或糖尿病性黄斑水肿。我们还招募了 812 名无 DR 或仅有轻微非增殖性 DR 的糖尿病患者作为对照（191 例 T1DM 和 621 例 T2DM）。有威胁视力的 DR 与糖尿病持续时间、高血压、肾病、神经病、糖化血红蛋白和体重指数显著相关。糖尿病性黄斑水肿与 T2DM 相关（P<0.001），而增殖性 DR 与 T1DM 相关（P<0.001）。
采用病例对照研究设计，涉及 DR 表型的极端情况，使本研究适合进行全基因组关联研究，以检测 DR 的遗传风险变异。
