eNOS基因第7外显子894G→T点突变与早期糖尿病肾病并高血压的关系  

ASSOCIATION STUDY OF 894G→T MUTATION AT EXON 7 OF ENDOTHELIAL NITRIC OXIDE SYNTHASE GENE AND DIABETIC NEPHROPATHY WITH HYPERTENSION

作　　者：李长贵[1] 吕淑云[2] 綦玉琴[1] 王娈[1] 闫胜利[1] 

机构地区：[1]青岛大学医学院附属医院内分泌科,山东青岛266003 [2]即墨市人民医院内科

出　　处：《青岛大学医学院学报》2004年第3期200-202,共3页Acta Academiae Medicinae Qingdao Universitatis

基　　金：山东省科技厅博士基金资助项目 ( 0 2BS0 94)

摘　　要：目的　探讨内皮细胞型一氧化氮合酶 (eNOS)基因第 7外显子 894位点多态性与糖尿病肾病并高血压的相关性。②方法　随机选择单纯 2型糖尿病病人 (2DM组 )、单纯糖尿病肾病病人 (DN组 )和糖尿病肾病并高血压病人 (DN +HP组 )为研究对象 ,应用PCR技术扩增目的片段 ,PCR产物以限制性内切酶BanⅡ进行酶切 ,2 0g/L的琼脂糖凝胶电泳分离。各组间等位基因频率及基因型频率的比较用卡方检验 ,危险因素分析用Logistic回归分析。③结果　DN病人组T等位基因和TG基因型频率显著高于单纯 2DM组 (χ2 =8.32～ 1 0 .2 3,P <0 .0 5 ) ,DN +HP组T等位基因及TG基因型频率与DN组比较差异无显著意义 (χ2 =0 .4 4、0 .6 1 ,P >0 .0 5 )。Lo gistic回归分析表明 ,体质量指数、HbA1c、TC、TG、eNOS基因第 7外显子 894G→T点突变是DN并高血压的危险因素。④结论　eNOS基因第 7外显子 894G→T点突变与糖尿病肾病并高血压有关。Objective To investigate the association among 894G→T polymorphisms at exon 7 of eNOS gene and diabetic nephropathy with hypertension. Methods Patients with simple diabetes millitus(2DM), diabetic nephropathy(DN), or DN with hypertension were randomly selected. The allele frequency and genotype distribution of 894G→T mutation at exon 7 of eNOS gene were determined by PCR RFLP method and 20 g/L sepharose electrophoresis. Results The frequencies of the T allele and TG genotype at exon 7 were significantly higher in DN group than in simple 2DM group ( χ 2=8.32-10.23,P <0.05).The frequencies of the T allele and TG genotype at exon 7 between the DN group and DN with hypertention group were not significantly different ( χ 2=0.44,0.61;P >0.05). Multivariate Logistic regression analysis showed that BMI, TG, TC, HbA1c and the 894G→T mutation at exon 7 of eNOS gene were independent risk factors for diabetic nephropathy with hypertention. Conclusion The 894G→T mutation at exon 7 of eNOS gene are related to diabetic nephropathy with hypertension.

关 键 词：一氧化氮合酶 糖尿病肾病 高血压 基因型 基因频率 

分 类 号：R587.1[医药卫生—内分泌]