AIM:To investigate the association between apolipoprotein E(APOE)-219 T>G promoter polymorphism and primary open angle glaucoma(POAG).METHODS:Patients and healthy subjects were genotyped with polymerase chain react...AIM:To investigate the association between apolipoprotein E(APOE)-219 T>G promoter polymorphism and primary open angle glaucoma(POAG).METHODS:Patients and healthy subjects were genotyped with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Genotype/allele frequencies were compared between 122 healthy subjects and in 75 POAG patients using Chi-square test.RESULTS:Although the frequency of APOE-219 GG genotype was higher in POAG group(13.3%)than in control group(6.6%),this finding was not statistically significant(P=0.09).In glaucoma patients carrying GG genotype,mean linear C/D ratio was higher and progression was more compared to glaucoma patients with GT genotype.CONCLUSION:APOE-219 T>G polymorphism does not seem to be a risk factor for the presence of glaucoma,but might play a role in deterioration of the disease,which needs further evaluation.展开更多
Background Cytochrome P450 2E1 （CYP2E1） has an important role in the metabolic activation of precarcinogens such as N-nitrosoamines and other low relative molecular mass, organic compounds. This study examined wheth...Background Cytochrome P450 2E1 （CYP2E1） has an important role in the metabolic activation of precarcinogens such as N-nitrosoamines and other low relative molecular mass, organic compounds. This study examined whether CYP2E1 Rsal and Dral polymorphism are associated with susceptibility to esophageal squamous cell carcinoma and the correlation between the genotypes and expression levels of CYP2E1 mRNA.Methods Seventy-seven patients with newly diagnosed, untreated esophageal squamous cell carcinoma and 79 healthy controls matched in age, gender and residence were recruited for the control study. An Rsal polymorphism in the 5＇-flanking region and a Dral polymorphism in the sixth intron of the CYP2E1 gene, which could possibly affect its transcription, were determined in this study by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and mRNA level of CYP2E1 was measured by quantitative real-time reverse transcription PCR.Results No significant association of Rsal or Dral polymorphism of CYP2E1 with susceptibility of esophageal squamous cell carcinoma were demonstrated （OR=1.67, 95%CI： 0.89-3.15, P=0.11; OR=1.11, 95%CI： 0.59-2.09, P=0.74, respectively）. With SHEsis software, no linkage disequilibrium was detected between Rsal and Dral polymorphism （D＇=0.528, r^2=0.27）. When combined Rsal polymorphism with Dral polymorphism, the association between that carrying c2 allele and DD genotype and the risk for esophageal squamous cell carcinoma were found （OR=5.77, 95%CI： 1.65-20.22）. Compared with the normal controls, the mRNA levels with Rsal polymorphism, Dral polymorphism, or any combined genotypes in cases showed no statistical difference.Conclusions This study suggests that carrying c2 allele and DD genotype conferreded an elevated risk for esophageal squamous cell carcinoma. There was no significant statistical relationship between the genotypes c1/c2, D/C, or the combined allele and mRNA expression.展开更多
目的:探讨载脂蛋白E(ApoE)基因多态性与散发阿尔茨海默病(sporad ic A lzhe im er d isease,SAD)的关系。方法:通过DNA直接测序的方法检查30例SAD和30例正常老人ApoE基因的3个编码外显子。结果:ApoEε4等位基因频率(23.3%,8.3%)及ε4/4,...目的:探讨载脂蛋白E(ApoE)基因多态性与散发阿尔茨海默病(sporad ic A lzhe im er d isease,SAD)的关系。方法:通过DNA直接测序的方法检查30例SAD和30例正常老人ApoE基因的3个编码外显子。结果:ApoEε4等位基因频率(23.3%,8.3%)及ε4/4,ε3/4,ε2/4基因型合并后其基因型频率(40%,16.7%)在SAD和对照组之间有显著差异(2χ=5.065,P<0.05;2χ=4.022,P<0.05);SAD组ε2等位基因频率与对照组相比差异不明显。结论:结果提示ApoEε4等位基因为本地区老年人群的危险因素。展开更多
基金Supported by Scientific Research Fund of Hacettepe University(No.0401601001)
文摘AIM:To investigate the association between apolipoprotein E(APOE)-219 T>G promoter polymorphism and primary open angle glaucoma(POAG).METHODS:Patients and healthy subjects were genotyped with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Genotype/allele frequencies were compared between 122 healthy subjects and in 75 POAG patients using Chi-square test.RESULTS:Although the frequency of APOE-219 GG genotype was higher in POAG group(13.3%)than in control group(6.6%),this finding was not statistically significant(P=0.09).In glaucoma patients carrying GG genotype,mean linear C/D ratio was higher and progression was more compared to glaucoma patients with GT genotype.CONCLUSION:APOE-219 T>G polymorphism does not seem to be a risk factor for the presence of glaucoma,but might play a role in deterioration of the disease,which needs further evaluation.
基金the National Nature Science Foundation of China(No.30671732 and No.30571540)the Preventive Medicine Foundation of Jiangsu Province(No.Y2006007)the National Science Development Foundation of Southeast University(No.XJ0525212)
文摘Background Cytochrome P450 2E1 （CYP2E1） has an important role in the metabolic activation of precarcinogens such as N-nitrosoamines and other low relative molecular mass, organic compounds. This study examined whether CYP2E1 Rsal and Dral polymorphism are associated with susceptibility to esophageal squamous cell carcinoma and the correlation between the genotypes and expression levels of CYP2E1 mRNA.Methods Seventy-seven patients with newly diagnosed, untreated esophageal squamous cell carcinoma and 79 healthy controls matched in age, gender and residence were recruited for the control study. An Rsal polymorphism in the 5＇-flanking region and a Dral polymorphism in the sixth intron of the CYP2E1 gene, which could possibly affect its transcription, were determined in this study by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and mRNA level of CYP2E1 was measured by quantitative real-time reverse transcription PCR.Results No significant association of Rsal or Dral polymorphism of CYP2E1 with susceptibility of esophageal squamous cell carcinoma were demonstrated （OR=1.67, 95%CI： 0.89-3.15, P=0.11; OR=1.11, 95%CI： 0.59-2.09, P=0.74, respectively）. With SHEsis software, no linkage disequilibrium was detected between Rsal and Dral polymorphism （D＇=0.528, r^2=0.27）. When combined Rsal polymorphism with Dral polymorphism, the association between that carrying c2 allele and DD genotype and the risk for esophageal squamous cell carcinoma were found （OR=5.77, 95%CI： 1.65-20.22）. Compared with the normal controls, the mRNA levels with Rsal polymorphism, Dral polymorphism, or any combined genotypes in cases showed no statistical difference.Conclusions This study suggests that carrying c2 allele and DD genotype conferreded an elevated risk for esophageal squamous cell carcinoma. There was no significant statistical relationship between the genotypes c1/c2, D/C, or the combined allele and mRNA expression.
文摘目的:探讨载脂蛋白E(ApoE)基因多态性与散发阿尔茨海默病(sporad ic A lzhe im er d isease,SAD)的关系。方法:通过DNA直接测序的方法检查30例SAD和30例正常老人ApoE基因的3个编码外显子。结果:ApoEε4等位基因频率(23.3%,8.3%)及ε4/4,ε3/4,ε2/4基因型合并后其基因型频率(40%,16.7%)在SAD和对照组之间有显著差异(2χ=5.065,P<0.05;2χ=4.022,P<0.05);SAD组ε2等位基因频率与对照组相比差异不明显。结论:结果提示ApoEε4等位基因为本地区老年人群的危险因素。
