糖尿病视网膜病变相关血液和基因检测指标

糖尿病视网膜病变是糖尿患者视力下降和致盲的主要原因.糖尿病视网膜病变的早发现、早治疗是提高糖尿病视网膜病变患者视力预后的重要方法.一些血液流变学指标以及血脂代谢的指标与糖尿病视网膜病变的程度相关.在基因检测中,醛糖还原酶基因、VEGF基因和晚期糖基化终产物受体基因等的基因多态性与糖尿病视网膜病变的进展密切相关.     

糖尿病视网膜病变相关血液和基因检测指标

糖尿病视网膜病变是糖尿患者视力下降和致盲的主要原因.糖尿病视网膜病变的早发现、早治疗是提高糖尿病视网膜病变患者视力预后的重要方法.一些血液流变学指标以及血脂代谢的指标与糖尿病视网膜病变的程度相关.在基因检测中,醛糖还原酶基因、VEGF基因和晚期糖基化终产物受体基因等的基因多态性与糖尿病视网膜病变的进展密切相关.     

糖尿病视网膜病变相关基因的研究进展

糖尿病视网膜病变是糖尿病晚期并发症之一,严重危害人类的健康。其发生与血糖控制状况、病程长短等因素有关。但近来研究表明糖尿病视网膜病变的发生和发展并不严格与血糖控制成正比,某些糖尿病视网膜病变患者还有家庭聚集现象,这些都表明除外环境因素,遗传因素在其发生和发展过程中也起重要作用。很多基因的突变导致了糖尿病视网膜病变的高度易感性,这些基因的发现为糖尿病视网膜病变的早期诊断、基因治疗和个体化治疗提供了有效的手段。本文就一些已经发现与糖尿病视网膜病变发生发展有关的基因进行综述。     

糖尿病视网膜病变相关基因的研究进展

糖尿病视网膜病变是糖尿病晚期并发症之一，严重危害人类的健康。其发生与血糖控制状况、病程长短等因素有关。但近来研究表明糖尿病视网膜病变的发生和发展并不严格与血糖控制成正比，某些糖尿病视网膜病变患还有家庭聚集现象，这些都表明除外环境因素，遗传因素在其发生和发展过程中也起重要作用。很多基因的突变导致了糖尿病视网膜病变的高度易感性，这些基因的发现为糖尿病视网膜病变的早期诊断、基因治疗和个体化治疗提供了有效的手段。本就一些已经发现与糖尿病视网膜病变发生发展有关的基因进行综述。     

糖尿病性视网膜病变的易感基因(英文)

糖尿病性视网膜病变是糖尿病的眼部慢性并发症,为成人致盲的主要原因。糖尿病患者长期处于高血糖状态将导致糖尿病性视网膜病变的形成。一些研究表明合理控制血糖是预防糖尿病病变的重要措施。然而,越来越多的家族聚集性和不同种族发病率的研究显示基因对于糖尿病性视网膜病变的发病有重要作用。一些糖尿病患者尽管血糖控制良好仍发展成糖尿病性视网膜病变,而另有一些患者尽管血糖控制不良却没有形成糖尿病性视网膜病变。这表明很多基因与糖尿病性视网膜病变的易感性有关,这些基因用于编码醛糖还原酶,氧化氮合酶,晚期糖化终产物受体,血管紧张素转换酶,血管内皮生长因子和色素上皮衍生因子。易感性基因的研究将有助于形成新的治疗策略。本文对糖尿病性视网膜病变形成和发展中相关遗传基因进行综述。     

糖尿病性视网膜病变遗传学研究进展

眼科疾病遗传学研究的飞速发展阐明了包括糖尿病性视网膜病变等与多基因遗传有关疾病的遗传学特点,由于多基因遗传病的病因较复杂,给研究工作带来了不少困难。尽管尚不能定论糖尿病性视网膜病变发生的确切遗传学因素,但是,国内外学者从改进实验技术和分析方法等多方面开展研究,取得了一些进展。本文主要就糖尿病性视网膜病变的遗传度、相关的多基因分析、遗传定位等方面作一综述,从不同角度探讨糖尿病性视网膜病变的遗传学特点。     

脂联素基因SNP＋276多态性与糖尿病性视网膜病变的关系

目的 分析重庆地区汉族人群脂联素基因SNP＋276 G／T、的基因型分布,探讨该多态性与糖尿病性视网膜病变的相关关系方法在重庆地区汉族人群中选取100例2型糖尿病患者、98例糖尿病性视网膜病变患者和69例正常对照组,采用聚合酶链式反应-限制性内切酶长度多态性（PCR-RFLP）方法检测脂联素基因SNP＋276的多态性位点,比较各组基因型及等位基因频率分布结果①脂联素基因SNP＋276在重庆地区汉族人群中存在三种基因型（G／G、G／T、T/T），对照组的分布频率分别为42．0％、47．8％、10．1％，糖尿病无视网膜病变组的分布频率分别为53．0％、39．0％、8．0％,糖尿病性视网膜病变组的分布频率分别为42．9％、37．8％、19．4％。②对照组、糖尿病无视网膜病变组及糖尿病性视网膜病变组三组脂联素基因SNP＋276基因型分布频率比较差异无统计学意义。③对照组、糖尿病无视网膜病变组及糖尿病性视网膜病变组的G等位基因频率分别为65．9％、72．5％、61．7％；三组脂联素基因SNP＋276等位基因的分布频率比较差异无统计学意义，结论脂联素基因SNP＋276多态性位点与重庆地区汉族人群中糖尿病性视网膜病变的发生无明显相关性。     

基因检测在糖尿病视网膜病变中的研究新进展

目前基因检测技术已日益成熟,并与多学科融合,为临床医生对疾病的诊断、治疗及预后提供了帮助。近年来,基因检测技术在糖尿病视网膜病变(DR)中取得了一些进展,主要应用于糖尿病视网膜病变的相关危险因素及后续个性化治疗方案的制订。因此,我们针对基因检测技术能够检测的糖尿病视网膜病变相关基因位点进行总结分析。     

糖尿病性视网膜病变基因多态性的研究进展

糖尿病性视网膜病变作为目前全球第二大致盲性疾病,是糖尿病最严重的并发症之一。寻找有效的预防和治疗方法,是目前急需解决的问题。有研究表明,糖尿病性视网膜病变的发病与遗传因素密切相关。本文主要对糖尿病性视网膜病变的相关基因的研究现状进行综述。     

糖尿病视网膜病变候选基因研究

糖尿病视网膜病变是一种与血糖水平、病程长短以及遗传与环境因素相互作用所致的复杂疾病，其相关或易感基因研究在近年来非常活跃。利用基因学方法，采用多聚酶链反应等技术，迄今已筛选出了数十种糖尿病视网膜病变的可能相关基因。本文选择介绍了与糖尿病视网膜病变密切相关的几个候选基因的研究进展。 (中华眼底病杂志, 2006, 22: 144-146)     

Genes and diabetic retinopathy

Several recent studies have provided evidence that good diabetes control is important to prevent diabetic retinopathy. However, some groups of patients develop diabetic retinopathy despite good control and others escape retinopathy despite poor control. This suggests the role of genetic factors in susceptibility to retinopathy. This article reviews the role of genetic factors in determining diabetic retinopathy.     

糖尿病视网膜病变相关基因多态性研究进展

糖尿病视网膜病变是糖尿病的并发症之一,严重影响人类健康和生活质量.探索并积极寻找预防和治疗的方法,是目前面临的主要问题.通过大量的流行病学调查后,发现糖尿病视网膜病变的发生和发展除了与疾病的病程、血糖控制的情况有关外,人群中个体差异的因素也十分重要.有的患者糖尿病的病程很长且血糖控制不良,但随访过程中并未发生糖尿病视网膜病变或其病变程度很轻;而有些患者虽然病程较短且血糖控制良好,但仍然发生了严重的增生性糖尿病视网膜病变,且病变呈明显的家族聚集性趋势.在排除了外界因素的干扰后,考虑发生这一现象的主要原因是由于遗传基因易感性不同所致.     

Insertion/deletion plasminogen activator inhibitor 1 and insertion/deletion angiotensin-converting enzyme gene polymorphisms in diabetic retinopathy in type 2 diabetes

In an association study, the relationship between the insertion/deletion (I/D) plasminogen activator inhibitor 1 (PAI-1) gene polymorphism or the I/D angiotensin 1-converting enzyme (ACE) gene polymorphism and the development of diabetic retinopathy in patients with type 2 diabetes was investigated. One hundred and twenty-four subjects with type 2 diabetes and diabetic retinopathy were compared to 80 diabetic subjects without retinopathy with diabetes of a duration of more than 10 years. The PAI-1 gene distribution and ACE gene distribution in patients with diabetic retinopathy (4G4G 31.4%, 4G5G 46.8%, 5G5G 21.8%; DD 26.6%, ID 50.8%, II 22.6%) were not significantly different from those of diabetic subjects without retinopathy (4G4G 31.3%, 4G5G 50%, 5G5G 18.7%; DD 31.3%, ID 40%, II 28.7%). Neither the 4G/5G PAI-1 gene polymorphism nor the I/D ACE gene polymorphism contributed to the genetic susceptibility to diabetic retinopathy, either non-proliferative, proliferative or severe proliferative diabetic retinopathy, i.e. visual acuity of 0.1 or less in the better eye, in a group of Caucasian subjects with type 2 diabetes.     

A1/A2 polymorphism of the glycoprotein IIIa gene and diabetic retinopathy in Caucasians with type 2 diabetes

Background: A PlA1/A2 polymorphism of glycoprotein IIIa is known to be involved in the pathogenesis of arterial thrombosis, myocardial infarction, stroke and type 2 diabetes, but there is no evidence of association with diabetic retinopathy. The aim of this study was to examine the role of the PlA1/A2 polymorphism of the glycoprotein IIIa gene in the development of diabetic retinopathy in Caucasians with type 2 diabetes. Design: Cross‐sectional case–control study. Participants: Totally 222 patients with diabetic retinopathy and 120 diabetic subjects without clinical signs of diabetic retinopathy from the Eye Clinic, University Medical Centre Ljubljana were enrolled in the study. Methods: Fundus examination and blood biochemical analysis were performed. The polymerase chain reaction and restriction fragment length polymorphism were used. Main Outcome Measures: The total cholesterol, triglyceride, high‐density lipoprotein levels, fasting blood glucose and HbA_1c were measured, and the genotypes of the PlA1/A2 polymorphism were determined. Results: Patients with diabetic retinopathy had earlier onset, longer duration of type 2 diabetes and a higher incidence of insulin therapy compared to the diabetic patients without diabetic retinopathy. A significantly lower frequency of the A2A2 genotype of glycoprotein IIIa was found in diabetic patients with retinopathy compared to those without retinopathy (odds ratio = 0.49, 95% confidence interval = 0.28–0.89; P = 0.018). Conclusions: The A2A2 genotype of the glycoprotein IIIa polymorphism was associated with lower risk for diabetic retinopathy in Caucasians with type 2 diabetes. Further studies are needed to elucidate its protective role in the development of diabetic retinopathy in Caucasians.     

甲基四氢叶酸还原酶基因多态性与 糖尿病视网膜病变的关系

目的探讨中国汉族人甲基四氢叶酸还原酶(ethylenetetrahydrofolate reductase,MTHFR)因多态性与糖尿病视网膜病变(iabetic retinopathy, DR)生和发展的关系。方法利用聚合酶链反应限制性片段长度多态性分析法(olymerase chain reaction and restriction fragme nt length polymorphism, PCR-LP)测85名中国汉族健康人、经检眼镜检查确诊的62 例合并DR和117例无DR 的中国汉族人2型糖尿病患者MTHFR基因第677位碱基多态性(C677T)。 结果DR患者MTHFR基因变异型纯合子和等位基因频率均明显高无DR的糖尿病患者及健康人(P<0．01)。结论MTHFR基因第677位碱基变异可能是中国汉族人DR发生的一个遗传危险因子。(中华眼底病杂志,2001,17:198-200)     

糖尿病视网膜病变相关基因多态性的研究进展

糖尿病视网膜病变（DR）是糖尿病最常见、最严重的并发症之一,发病率和致盲率逐年上升。通常认为其发生、发展与血糖控制情况、糖尿病病程长短等因素有关,而发病机制尚未完全明了。现在越来越多的证据表明其与遗传易感性不同有关。DR是一种多基因作用的疾病,近年来的研究已筛选出数十种可能与之相关的基因多态性,其中包括广受关注的血管内皮生长因子基因多态性、一氧化氮合酶基因多态性等。研究它们在DR发生发展过程中的作用机制,对今后DR风险预测、早期诊断及指导治疗具有重要意义。本文将对DR相关基因多态性的研究进展进行综述。     

外泌体在糖尿病视网膜病变的机制研究进展

外泌体是广泛存在于人体，由机体细胞产生并分泌的纳米级细胞外囊泡，能相对稳定地存在于各种生物组织和体液中，并携带特定的miRNA、蛋白质、转录因子等多种信息分子，参与调控体内多种疾病的病理生理过程。近年来随着外泌体在各学科研究的不断深入，其在眼科学领域的研究也迅速开展，目前发现外泌体在糖尿病视网膜病变、年龄相关性黄斑变性、自身免疫性葡萄膜炎、角膜病及青光眼等多种疾病中发挥重要作用。随着生活水平的提高，全世界糖尿病视网膜病变致盲人数逐年增加，而糖尿病视网膜病变机制研究未明，近年许多研究发现外泌体在其中发挥着重要作用，本文对外泌体在糖尿病视网膜病变的发生、发展机制的最新研究进展进行综述。     

Impact of variants in the VEGF gene on progression of proliferative diabetic retinopathy

Background  The development of diabetic retinopathy is associated with the duration of diabetes and HbA1c levels. However, the familial aggregation of diabetic retinopathy is consistent with genetic susceptibility. Recently, a –634C/G polymorphism in the vascular endothelial growth factor (VEGF) gene was shown to be associated with diabetic retinopathy. To clarify the contribution of the VEGF gene in the development of diabetic retinopathy we analyzed variants in this gene among 469 Japanese patients with type 2 diabetes. Methods  DNA from each patient was typed for –634C/G and –2578C/A polymorphisms using conventional polymerase chain reaction techniques. The vitreous fluid samples were obtained from 40 patients with PDR for measurement of VEGF levels. Results  We found a significantly higher frequency of the A allele in the group with proliferative diabetic retinopathy (PDR) than in the control group at –2578C/A polymorphism (p = 0.036). Moreover, if the subjects were grouped according to the duration of diabetes and status of diabetic retinopathy (a first group consisting of subjects with longer duration (>20 y) of diabetes without any retinopathy (n = 102), and a second group of those with shorter diabetes (<15 y) but having retinopathy (n = 35), the genotype distribution at -2578 C/A polymorphism was again significantly higher in the second group (p = 0.005) and differed significantly (p = 0.002) in a recessive model. The risk of the AA for PDR was 7.7 (95%, CI: 1.8–30.9). Conclusions  The AA genotype at –2578C/A polymorphism in the VEGF gene is associated with proliferative diabetic retinopathy. No significant association with –634 C/G polymorphism was confirmed. There is no potential conflict of interest and no involvement of funding sources in this research.     

Diabetic retinopathy and systemic vascular complications

Retinopathy is the most common complication of diabetes. The assessment of retinopathy signs presents clinicians a unique opportunity to directly visualize and assess the actual morphology of diabetic microvascular damage. Extensive studies have now shown that people with diabetic retinopathy have excess risks of systemic vascular complications, including subclinical and clinical stroke, coronary heart disease, heart failure, and nephropathy. There is also emerging evidence to suggest that diabetic retinopathy may share common genetic linkages with systemic vascular complications. The extant literature, therefore, supports the theory that diabetic retinopathy reflects widespread microcirculatory disease not only in the eye but also vital organs elsewhere in the body. Being a uniquely specific and non-invasively assessable measure of diabetic microvascular damage, retinopathy may also be envisioned as a novel biomarker of vascular disease risk in asymptomatic patients with diabetes. This review summarizes recent studies on the systemic associations of diabetic retinopathy, and discusses their pathophysiological significance and clinical implications.