海南黎族2型糖尿病患者VEGF基因多态性与糖尿病视网膜病变关系

目的:探讨海南黎族2型糖尿病患者血管内皮细胞生长因子(VEGF)基因rs2010963和rs3025039的单核苷酸多态性与糖尿病视网膜病变(DR)的相关性。方法:前瞻性研究。随机收集2016-09/2019-10海南黎族2型糖尿病患者89例,其中非增殖期DR(NPDR)患者30例、增殖期DR(PDR)患者33例,2型糖尿病无视网膜病变(DWR)患者26例作为对照。运用聚合酶链式反应-限制性片段长度多态性技术测序法,进行VEGF基因相应位点的多态性分析,比较基因型和等位基因频率的差别。结果:在rs2010963位点上,与DWR组比较,PDR组CC基因型显著升高(P<0.016667),PDR组CG基因型显著降低(P<0.016667),三组患者的GG基因型和C、G等位基因分布比较均无差异(P>0.05)。在rs3025039位点上,DWR组,NPDR和PDR组三组的CC、CT基因型及C、T等位基因分布均无差异(均P>0.05)。海南黎族PDR患者尿素、肌酐水平较DWR和NPDR组均显著升高(均P<0.05)。结论:海南黎族2型糖尿病患者VEGF基因rs2010963基因多态性与DR发生有关,CC基因型可能是DR发生的遗传危险因素,增加PDR的易感性。rs2010963基因多态性对于PDR具有协同作用。     

维生素D受体Taq基因多态性与糖尿病视网膜病变的关系

目的探讨维生素D受体(VDR)Taq基因多态性与糖尿病视网膜病变(DR)的关系。方法应用片段长度差异等位基因特异性多聚酶链反应(FLDAS-PCR)技术,检测158例DR患者和198名正常对照者的VDRTaq基因多态性。结果VDRTaq基因型在DR患者中的分布为TT型106例,占67.1%,Tt型33例,占20.9%,tt型19例,占12.0%;在正常对照者中的分布为TT型165例,占83.3%,Tt型23例,占11.6%,tt型10例占5.1%。DR患者与正常对照者TT、Tt、tt基因型分布差异有统计学意义(P<0.05)。结论DR与维生素D受体Taq基因多态性有一定的关系。     

维生素D受体基因多态性与2型糖尿病患者视网膜病变的相关性分析

目的：探讨维生素D受体基因多态性与2型糖尿病(T2DM)患者视网膜病变的相关性。

方法：筛选2018-02/2019-01我院收治的T2DM患者198例作为研究对象,分为糖尿病性视网膜病变(DR)组(n=108)和非DR组(n=90)。应用聚合酶链反应-限制性片段长度多态性对rs1544410、rs2228570位点多态性进行检测。非条件Logistic回归分析rs1544410、rs2228570基因多态性与2型糖尿病患者视网膜病变的关系。

结果：DR组VDR基因rs1544410位点T等位基因频率、rs2228570位点A等位基因频率均显著高于非DR组(P<0.05); CC基因型130例,CT基因型52例,TT基因型16例,CC基因型与CT+TT基因型相关指标比较有差异(P<0.05); GG基因型121例,GA基因型59例,AA基因型18例,GG基因型与GA+AA基因型相关指标比较有差异(P<0.05); BsmI基因CT+TT基因型、FokI基因GA+AA基因型是DR的危险因素(P<0.05)。

结论：VDR基因BsmI、FokI多态性与2型糖尿病视网膜病变显著相关,可能是2型糖尿病视网膜病变的易感基因位点。     

维生素D受体TaqⅠ基因多态性与糖尿病视网膜病变的关系

目的 探讨维生素D受体(VDR)TaqⅠ基因多态性与糖尿病视网膜病变(DR)的关系。 方法 应用片段长度差异等位基因特异性多聚酶链反应(FLDAS-PCR)技术，检测158例DR患者和198名正常对照者的VDRTaqⅠ基因多态性。 结果 VDRTaqⅠ基因型在DR患者中的分布为TT型106例，占67.1%,Tt型33例，占20.9%,tt型19例，占12.0%;在正常对照者中的分布为TT型165例，占83.3%，Tt型23例，占11.6%,tt型10例占5.1%。DR患者与正常对照者TT、Tt、tt基因型分布差异有统计学意义(P<0.05)。结论 DR与维生素D受体TaqⅠ基因多态性有一定的关系。 (中华眼底病杂志， 2006， 22： 94-96)     

PPAR-γ2基因Pro12Ala多态性与2型糖尿病视网膜病变的相关性研究

目的:研究过氧化物酶体增殖物激活受体-γ2(PPAR-γ2)基因Pro12Ala多态性与山西地区汉族人群2型糖尿病性视网膜病变(DR)的相关性。方法:选取年龄40～70岁、糖尿病病程10～20a、血压<140/90mmHg且不合并糖尿病肾病的2型糖尿病患者90例,其中无DR组(NDR组)、非增生型DR组(BDR组)和增生型DR组(PDR组)各30例,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术,对所有患者PPAR-γ2基因Pro12Ala多态性位点进行基因分型。结果:该研究人群中存在2种等位基因和3种基因型,其中NDR组中基因型PP,PA,AA分别为40.0%,53.3%和6.7%,BDR组分别为70.0%,30.0%和0%,PDR组分别为76.7%,23.3%和0%;三组间比较,基因型频率(χ2=10.351)和等位基因频率(χ2=10.208)的差异均有统计学意义(P<0.05)。Logistic回归分析结果显示Pro12Ala基因多态性是DR发生的危险因素。结论:PPAR-γ2基因Pro12Ala多态性与山西地区部分汉族人群2型糖尿病视网膜病变有关,且可能是抑制其发生的保护性因子。     

中国人VEGF基因多态性与DR的关系

目的:探讨血管内皮生长因子(vascular endothelial growth factor,VEGF)I/D基因多态性与糖尿病视网膜病变(diabetic retinopathy,DR)的关系。方法:应用PCR-RFLP方法检测91例2型糖尿病患者和30例对照者的VEGF I/D基因和VEGF水平。结果:NPDR组和PDR组DD基因型频率显著高于NDR组和对照组(P<0.01);NPDR组和PDR组血清VEGF水平显著高于NDR组和对照组(P<0.01)。结论:VEGF I/D基因多态性很可能与DR的发生发展有关,D等位基因可能是DR的易感基因。     

无锡地区汉族人群RAGE基因启动子区374T/A多态性与糖尿病视网膜病变的相关研究

目的探讨无锡地区汉族人群RAGE基因启动子区374T/A多态性与糖尿病视网膜病变(diabetesretinopathy,DR)的相关性。方法 运用聚合酶链反应直接测序法检测120名正常人及185名2型糖尿病(type2diabetesmellitus,T2DM)患者,包括DR患者92例,无糖尿病视网膜病变(nondiabetesretinopathy,NDR)患者93例的基因型。比较各组受检者基因型和基因频率及生化指标。结果 DR组患者糖尿病病程明显长于NDR组(t=2.254,P=0.01),两组间其他临床特征的差异均无统计学意义(均为P>0.05);DR组、NDR组及对照组AA基因型频率为6.5%、2.2%、3.3%,A等位基因频率分别是23.9%、14.0%、15.4%;DR组AA基因型及A等位基因频率分布显著高于NDR组及对照组,其差异有统计学意义(P=0.026、P=0.015;P=0035、P=0.027)。NDR组与对照组的各基因型和等位基因频率分布比较,差异无统计学意义(P>0.05)。单因素Logistic回归分析示,A等位基因是T2DM人群DR发病的危险因素(OR=1.934,95%CI:1.132～3.303)。结论 RAGE基因启动子区374T/A多态性与无锡地区DR的发生有一定的相关性,且A等位基因可能是其危险因素。     

国人2型糖尿病患者TLR2及TLR4基因多态性与糖尿病视网膜病变的关联性研究

目的探讨国人2型糖尿病患者TLR2及TLR4基因多态性与糖尿病视网膜病变（DR）的关联性。设计比较性病例系列。研究对象连续收集病程≥5年的中国汉族2型糖尿病患者205例。其中男性88例,女性117例,平均年龄（59.39±9.17）岁。方法根据患者眼底及荧光素眼底血管造影检查结果将患者分为合并视网膜病变（DR）组（155例）及无视网膜病变（DNR）组（50例）。对所有患者采用基质辅助激光解吸电离飞行时间质谱法（MALDI-TOF-MS）对TLR2和TLR4基因的15个单核苷酸多态性（SNP）的基因型进行检测,比较两组间等位基因分布频率及基因型分布频率的差异。主要指标等位基因分布频率、基因型分布频率及优势比（OR值）。结果 TLR2基因的5个SNP、TLR4基因的5个SNP可检出多态性变化。其中,TLR4rs11536889的GG基因型分布频率在DR组（60.64%）显著高于DNR组（52.00%）,差异有统计学意义（P=0.036,OR=1.927,95%CI=1.057~3.516）。结论国人2型糖尿病患者TLR4基因rs11536889的GG基因型与DR的发生密切相关。     

中国汉族2型糖尿病人群中UCP基因单核苷酸多态性与视网膜病变的关联分析

背景 研究发现血糖水平的短期升高可对细胞和组织造成长期损害,这种损伤可能存在代谢记忆现象,合理管理血糖代谢记忆对糖尿病并发症的预防有重要作用,但其机制尚未完全阐明,推测糖尿病患者中糖尿病视网膜病变(DR)的发生可能与相关机制有关.解偶联蛋白(UCPs)可减少线粒体活性氧(ROS)的生成,可能与DR发病相关. 目的 探讨中国汉族2型糖尿病人群中DR与UCP基因单核苷酸多态性(SNPs)之间的关系.方法 采用横断面研究方法和整群抽样法,于2014年11月至2015年1月在上海市新泾社区对1 875例确诊为2型糖尿病的患者进行流行病调查,收集受检者的基本信息、眼科检查和血生物化学检验结果,采集每例患者的全血2 ml以提取DNA.采用Sequenom平台将UCP1基因的8个SNPs位点、UCP2基因的3个SNPs位点及UCP3的7个SNPs位点选为标记位点以检测基因型,采用SAS和SHEsis软件计算Hardy-Weinberg平衡、碱基型和基因型频率,评估各位点SNPs与DR之间的关系. 结果 受检的1 875例2型糖尿病患者中530例患DR,占28.27％.UCP2基因的rs660339位点和UCP3基因的rs1626521位点、rs668514位点的检出率低,UCP2基因rs632862位点次要等位碱基频率＜0.01,UCP3基因的rs15763位点不符合Hardy-Weinberg平衡,故均不纳入分析.在纳入分析的13个SNPs位点中,仅有UCP1基因的2个SNPs位点与DR发病有关,其中与非糖尿病视网膜病变(NDR)患者比较,DR患者rs10011540的G碱基频率增加[P=O.03,OR=1.31,95％可信区间(C1)=1.03～1.67],rs3811787的T碱基频率下降(P=0.04,OR=0.86,95％ CI=0.75 ～0.99).基因型分析发现,DR患者UCP1基因的rs3811790位点纯合子C/C和A/A频率明显多于NDR患者,杂合子C/A频率少于NDR患者,差异均有统计学意义(P＜0.01).Logistic回归分析提示,在排除了血糖水平和糖尿病病程的影响因素后,rs10011540和rs3811787位点SNPs仍是DR发病的独立影响因素.结论 中国汉族2型糖尿病患者UCP1基因rs10011540和rs3811787位点SNPs与DR发病相关.     

2型糖尿病视网膜病变与基质金属蛋白酶-3基因多态性关系的研究

目的:探讨基质金属蛋白酶-3(matrix metalloproteinases-3,MMP-3)基因多态位点与承德地区人群2型糖尿病视网膜病变的遗传易感性的关系.方法:应用病例对照研究方法,选取195例糖尿病视网膜病变患者(DR组),其中非增殖性糖尿病视网膜病变(non-proliferative diabetic retinopathy,NPDR)组(n=152)和增殖性糖尿病视网膜病变(proliferative diabetic retinopathy,PDR)组(n=43),205例单纯糖尿病患者(DM组)和261例正常对照组(Control组),采用限制性片段长度多态性(restrictive fragment length polymorphism,RFLP)-聚合酶链反应(polymerase chain reaction,PCR)方法检测MMP-3的基因多态性.结果:MMP-3-1171 5A/6A的等位基因及基因型频率分布在Control组,DM组和DR组之间差异无显著性(P=0.474和P=0.407).MMP-3-1171 5A/6A的等位基因及基因型频率分布在NPDR和PDR组之间差异无显著性(P=0.724和P=o.820).结论:MMP-3-1171 5A/6A基因多态性与2型糖尿病视网膜病变的遗传易感性无关.     

The relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy: A meta-analysis in multiethnic groups

Background: Many studies have analyzed the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and diabetic retinopathy (DR), however, the results remained inconclusive. We therefore aim to address this association by performing a meta-analysis in multiethnic groups. Methods: Related studies were identified from PubMed and Chinese databases up to October 2016. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of the associations.Results: A total of 20 studies including 1860 DR cases and 3646 controls were involved in this meta-analysis. In the overall population, we found that MTHFR C677T polymorphism was significantly associated with an increased risk of DR for each genetic model. In this meta-analysis stratified by ethnicity, significantly increased risk of DR with the MTHFR C677T variants was found in the Chinese, Japanese, and Turks populations.Conclusions: Our study suggested that the MTHFR C677T polymorphism may contribute to DR development in multiethnic groups. Studies with larger sample sizes and wider spectrum of populations are warranted to verify this finding.     

5,10-Methylenetetrahydrofolate reductase C677T gene polymorphism in Behcet's patients with or without ocular involvement

BACKGROUND: Increased serum levels of homocysteine (Hcy) have been reported in patients with Beh?et's disease (BD) with an established risk factor for vascular involvement. Recently, the authors demonstrated that elevated Hcy levels are associated with ocular involvement in such patients. On the other hand, elevated levels of Hcy can result from genetic errors. Indeed, a mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) gene influences Hcy metabolism and, therefore, MTHFR C677T polymorphism provokes hyperhomocysteinaemia. AIM: To investigate the possible genetic factor for the elevation of plasma Hcy level in patients with BD by examining gene interaction with the MTHFR C677T polymorphism, a crucial factor of the Hcy metabolism. In addition, the authors aimed to evaluate if there is an association between the C677T polymorphism and the presence of ocular involvement in such patients. METHOD: A total of 59 patients with BD (25 men, 34 women) with a mean age of 34.9 years and 42 age and sex matched healthy control subjects (19 men, 23 women; mean age 32.2) were included in this investigation. MTHFR gene polymorphism was investigated by the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of a genomic DNA fragment at nucleotide 677 in all subjects in both groups. The genetic equilibrium is assumed for the gene frequencies of the MTHFR polymorphism in both samples. RESULTS: The genotype of the MTHFR gene differed between the Beh?et's patients and control subjects (TT: 11.9 v 2.4%; CT: 55.9 v 61.9%; CC: 32.2 v 35.7 %). TT homozygous genotype was more frequently in BD patients than the controls, though the difference was not significant (p = 0.063). In BD patients with ocular involvement, however, the frequencies of MTHFR TT homogenetic type (27.8%) were significantly and statistically higher than those in BD patients without ocular involvement (4.9%, p = 0.022, odds ratio = 7.5), or the controls (2.4%, p = 0.003, odds ratio = 20.0). TT homozygous genotype was associated with an increased risk for ocular involvement. CONCLUSION: Elevated serum levels of Hcy seem to be a result of C677T polymorphism of the MTHFR gene, with increased TT individuals over CC and CT genotype BD patients. Although no association was shown between the MTHFR reductase C677T polymorphism and the increased risk of oral aphtahe or genital ulcers, a mutation in this gene was associated with an increased risk of ocular involvement, suggesting genetic instability with a potential initiation of Hcy lowering therapy in this patient group.     

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。     

Nrf2基因多态性与糖尿病视网膜病变的相关性研究

目的：探讨陕西地区汉族人群中,核因子E2相关因子2(Nrf2)基因多态性与糖尿病视网膜病变(DR)的相关性。

方法：收集2016-01/2017-01在我院治疗的386例2型糖尿病(T2DM)患者分为无视网膜病变(DWR)组181例,增生期DR(PDR)组62例和非增生期DR(NPDR)组143例。另外,收集120例非糖尿病且无视网膜疾病的患者作为对照组。采用聚合酶链反应(PCR)联合DNA直接测序法检测Nrf2基因启动子rs6721961位点单核苷酸多态性。

结果： DWR组与对照组比较,rs6721961位点基因型和等位基因分布频率均无差异(P>0.05); PDR组和NPDR组分别与对照组和DWR组比较,突变纯合子(AA基因型)和突变基因(A等位基因)分布频率差异均有统计学意义(P<0.05)。PDR组和NPDR组比较,基因型和等位基因分布频率均无差异(P>0.05)。Logistic多因素回归分析结果显示rs6721961位点A等位基因与DR发生相关(OR=1.532, 95%CI ：1.169～2.008, P=0.014)。

结论： Nrf2基因多态性可能与DR遗传易感性相关。     

The association analysis polymorphism of CDKAL1 and diabetic retinopathy in Chinese Han population

AIM: To identify the contribution of CDKAL1 to the development of diabetic retinopathy (DR) in Chinese population. METHODS: A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus (T2DM). A well-defined population with T2DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant (rs10946398) of CDKAL1. Genotyping was performed by iPLEX technology. The association between rs10946398 and T2DM was assessed by univariate and multivariate logistic regression (MLR) analysis. RESULTS: There were significant differences in C allele frequencies of rs10946398 (CDKAL1) between control and DR groups (45.06% versus 55.00%, P<0.05). The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes. CONCLUSION: Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.     

一氧化氮合酶基因多态性与糖尿病视网膜病变相关性研究

目的　观察中国汉族人群中血管内皮原生型一氧化氮合酶(ecNOS)基因的多态性与糖尿病视网膜病变（DR）之间的相关性。方法　166例临床确诊为非胰岛素依赖型糖尿病患者为病例组,选取无糖尿病、高血压、肾病,年龄40岁以上,个体间无血缘关系的85例白内障、骨折患者和健康体检者为正常对照组。病例组患者根据有无视网膜病变和荧光素眼底血管造影检查结果分为无DR组、非增生期DR组（BDR组）和增生期DR组（PDR组）。病例组和正常对照组受检者均为汉族。抽取外周静脉血,提取DNA,采用聚合酶链反应（PCR）检测ecNOS基因第四内含子中27个碱基对（bp）重复的多态性。结果 PCR产物测序结果经检索GeneBank,扩增序列与GeneBank中ecNOS基因相应区域的序列相一致,显示在汉族人群中同样存在27个bp的重复序列,等位基因b重复5次,等位基因a重复4次。PCR检测结果显示,在正常对照组和无DR组、BDR组、PDR组中均存在2种等位基因和3种基因型。正常对照组中基因型bb、ab、aa分别为80.0％、16.5%、3.5％、无DR组分别为77.2％、13.9%、8.9％、BDR组分别为80.5％、17.1%、2.4％、PDR组分别为78.3％、13%、8.7％;正常对照组、无DR组、BDR组、PDR组两两比较,等位基因频率（χ²=1.841）和基因型频率（χ²=3.847）均无统计学意义（P＞0.5）。Logistic回归分析结果也显示DR与ecNOS基因重复多态性无关。结论　中国汉族人群ecNOS基因第四内含子存在27个bp重复的多态性,但可能与非胰岛素依赖型糖尿病患者视网膜病变无关。      

内皮型一氧化氮合酶基因第4内含子中27碱基对重复序列多态性与糖尿病视网膜病变的相关性研究

目的 观察内皮型一氧化氮合酶(eNOS)基因第4内含子中27碱基对(bp)重复序列(VNTR)的插入/缺失(a/b)多态性与糖尿病视网膜病变(DR)之间的相关性.方法 321例确诊为2型糖尿病且病程在10年以上的患者为病例组,146名健康体检者为正常对照组.所有受检者均为中国汉族.病例组患者根据间接检眼镜及荧光素眼底血管造影检查结果分为DR组和无DR组(NDR组),分别为154、167例.采用聚合酶链式反应(PCR)结合8%聚丙烯酰胺凝胶电泳分离技术检测eNOS基因第4内含子中27 bp VNTR多态性,比较各组间b、a等位基因频率与b/b、a/a、b/a基因型频率,分析其与疾病的相关性.结果 eNOS基因第4内含子中27 bp VNTR b等位基凶频率在DR组显著高于NDR组(x2=4.745,P=0.029;OR=1.685,95%CI=1.050～3.905)和正常对照组(x2=6.958,P=0.008;OR=1.891,95%CI=1.172～4.437);b/b基因型频率在DR组显著高于NDR组(x2=4.811,P=0.028;OR=1.790,95%CI=1.060～4.645)和正常对照组(x2=5.203,P=0.023;OR=1.859,95%CI=1.087～4.952).结论 中国汉族2型糖尿病患者eNOS基因第4内含子b等位基因及b/b基因型与DR发生密切相关.

Abstract：

Objective To investigate the relationship between diabetic retinopathy(DR)and insertion/deletion(a/b)polymorphism of a 27 base pair variable number tandem repeat(VNTR)in intron 4of the endothelial nitric oxide synthase(eNOS)gene.Methods 321 patients of type 2 diabetes mellitus with over 10 years duration(case group)and 146 normal subjects(control group)were enrolled in this study.All the clients are Han Chinese.The case group was divided into DR subgroup(1 54 patients)and non-DR (NDR)subgroup(167 patients)according to the results of indirect ophthalmoscope and fundus fluorescent angiography.The VNTR polymorphism in eNOS gene was determined by polymerase chain reaction(PCR)combined with 8% agarose gel electrophoresis.Then the b,a allele frequency and b/b.a/a.b/a allele frequency of two groups were compared,and its correlation with diseases were analyzed.Results The b allele frequency of the VNTR in intron 4 of eNOS gene in the DR group was significantly higher than that in the NDR group(χ2=4.745,P=0.029;OR=1.685,95% CI=1.050-3.905)and control group(χ2=6.958,P=0.008;OR=1.89l,95% CI=1.172-4.437);b/b allele frequency in the DR group was also significantly higher than that in the NDR group(χ2=4.811,P=0.028;OR=1.790,95% CI=1.060-4.645)and controI group(χ2=5.203,P=0.023;OR=1.859,95% CI=1.087-4.952).Conclusions The b allele and b/b genotype in intron 4 of eNOS gene in the Han Chinese are closely related to DR.     

A Study of VEGF Gene Polymorphism in Egyptian Patients with Diabetic Retinopathy

Background: There are subgroups of patients with diabetes mellitus (DM) in whom diabetic retinopathy (DR) does not develop despite poor long-term control of their disease, while others exercising fairly good control, develop retinopathy. So, we aimed to investigate the association of DR with ?2578 polymorphism of the vascular endothelial growth factor (VEGF) gene, which has been reported to be associated with increased VEGF production, in Egyptian diabetic patients.

Materials and Methods: This is a case control study in which 148 diabetic patients were enrolled. Among them, 44 subjects had proliferative diabetic retinopathy (PDR), 30 had non-proliferative diabetic retinopathy (NPDR), and 74 individuals without retinopathy served as controls. A single nucleotide polymorphism (SNP) of the VEGF gene, a C→A transversion at ?2578 (the C/A polymorphism), was investigated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

Results: We found a higher frequency of the polymorphic genotype in both the NPDR (66.7%) and PDR (72.7%) groups compared to the wild C/C genotype (33.3% in NPDR and 27.3% in PDR), but with no statistically significant difference from the control group. Significant association of the progression of DR to the polymorphic genotype was achieved at diabetes duration more than 20 years.

Conclusion: Despite of the higher frequency of both the polymorphic genotype and the A allele in cases with DR compared to the control group, there might be no significant association between the VEGF gene polymorphism and DR per se, unless it is longstanding.     

Ⅱ型糖尿病患者血红蛋白晚期糖基化终末产物与视网膜病变的关系

目的 研究糖尿病(diabetes mellitus, DM)患者血红蛋白晚期糖基化终末产物(hemoglobin-advanced glycosylation end products, Hb-AGE)与糖尿病视网膜病变(diabetic retinopathy, DR)的关系。 方法 采用竞争性ELISA法检测125例并发或未并发DR的Ⅱ型 DM患者的Hb-AGE含量，并与50例正常对照者比较。 结果 DM患者Hb-AGE比正常对照者平均增加65%；并发DR者Hb-AGE显著高于无DR患者；空腹血糖(fasting plasma glucose FPG)水平与Hb-AGE含量及DR发生率无直接相关性,血压(BP)、HbA1c及血脂水平与Hb-AGE含量和DR发生率有关(P<0.05,或P<0.01)。多因素分析显示DR严重度与Hb-AGE关系更为密切(偏相关系数=0.604, P<0.001)。 结论 DM控制与体内血红蛋白晚期糖基化终末产物(hemoglobin-hemoglobin-advanced glycosylation end producs,Hb-AGE）含量改变有关, AGE大量形成与DR发生和发展有关。(中华眼底病杂志,2000,16:147-149)