汉族人群内皮细胞型一氧化氮合酶基因多态性与2型糖尿病肾病相关性  

Association of the polymorphisms of endothelial nitric oxide synthase gene with type 2 diabetic nephropathy

作　　者：程洁[1] 周宏久[1] 黄志清[1] 陈婷[1] 

机构地区：[1]广东医学院附属医院肾内科,广东湛江524001

出　　处：《中华实用诊断与治疗杂志》2016年第1期24-26,共3页Journal of Chinese Practical Diagnosis and Therapy

基　　金：湛江市科技攻关计划(2010C3103002)

摘　　要：目的探讨汉族人群内皮细胞型一氧化氮合酶(endothelial nitric oxide synthase,eNOS)基因多态性与2型糖尿病肾病的相关性。方法 2型糖尿病肾病患者41例为DN组,2型糖尿病非肾病患者34例为NDN组,同期体检健康汉族人46例为对照组,采用PCR结合非变性聚丙烯酰胺凝胶电泳技术检测3组eNOS基因的多态性,比较3组基因型、等位基因的分布频率。结果 DN组eNOS基因第4内含子bb基因型(63.4%)和b等位基因(81.7%)分布频率明显低于NDN组(85.3%、92.6%),ab基因型频率(36.6%)和a等位基因频率(18.3%)明显高于NDN组(14.7%、7.4%)(P<0.05);DN组和NDN组第4内含子基因型和等位基因分布频率与对照组(bb基因型74.0%、b等位基因87.0%、ab基因型26.0%、a等位基因13.0%)比较差异均无统计学意义(P>0.05);3组间第7外显子多态位点基因型和等位基因分布频率比较差异无统计学意义(P>0.05)。结论汉族人群2型糖尿病肾病发病与eNOS第4内含子a等位基因密切相关。Objective To investigate the association of the polymorphisms of endothelial nitric oxide synthase （eNOS） gene with type 2 diabetic nephropathy in Han patients. Methods The polymorphisms of eNOS were detected by PCR and non-denaturing polyacrylamide gel electrophoresis in 41 Han patients with type 2 diabetic nephropathy （DN group）, 34 Han patients with type 2 diabetic mellitus （non-DN group） and 46 Han healthy volunteers （control group）. The distribution frequencies of allele and allelotype were compared among three groups. Results The frequencies of the allele bb and b genotypes in intron 4 were significantly lower in DN group （63. 4%, 81. 7%） than those in non-DN group （85.3%, 92.6%） （P〈0.05）. The distribution frequencies of allelotype ab and allele a were significantly higher in DN group （36.6%, 18.3%） than those in nonDN group （14. 7%, 7.4%） （P〈0.05）. The allelotypes and frequencies of intron 4 in DN and non-DN groups showed no significant differences in comparison with those in control group （bb： 74.0%, b： 87.0%, ab： 26.0%, a： 13.0 %） （P〉0.05）, and there were no significant differences in the frequencies of alleles and allelotypes of exon 7 among three groups （P;〉0.05）. Conclusion The eNOS allele a in intron 4 may be involved in type 2 diabetic nephropathy in Han patients.

关 键 词：2型糖尿病肾病 内皮细胞型一氧化氮合成酶 基因 

分 类 号：R587.2[医药卫生—内分泌]