两个基因多态性并存与糖尿病肾病的相关性研究  

The association between polymorphisims of aldose reductase gene and endothelial nitric oxide synthase and diabetic nephropathy

作　　者：肖争流 

机构地区：[1]山东东营胜利油田现河医院内科,山东东营257068

出　　处：《医学研究生学报》2005年第11期977-980,985,共5页Journal of Medical Postgraduates

基　　金：山东省科委博士基金资助项目(批准号:02BS094)

摘　　要：目的:探讨醛糖还原酶(AR)基因启动子区C-106T和内皮型一氧化氮合酶(eNOS)基因第7外显子894G→T多态性并存与2型糖尿病肾病(DN)的相关性。方法:运用聚合酶链反应限制性片段长度多态性技术(PCR-RFLP),检测202例AR基因启动子区C-106T多态位点和eNOS基因第7外显子894G→T多态位点的等位基因和基因型。结果:①eNOS基因第7外显子894G→T多态位点的T等位基因、TG基因型频率和AR基因启动子区C-106T多态位点的T等位基因、CT基因型频率在早期DN组均明显高于非DN组和正常对照组(P<0.05)。②将上述基因多态性联合分析发现,早期DN组的TGCT基因型频率显著高于非DN组和正常对照组(P<0.005)。结论:对于2型糖尿病(DM)患者:①eNOS基因第7外显子894G→T多态位点的T等位基因及TG基因型可能是DN的易感等位基因及易感基因型。②AR基因启动子区C-106T多态位点的T等位基因及CT基因型可能是DN的易感等位基因及易感基因型。③联合分析发现,同时携带TGCT基因型的2型DM患者,DN的发病风险更高。Objective ：To investigate the association between polymorphisims of both the 894G→T at exon 7 of endothelial nitric oxide synthase（eNOS） gene and the C-106T at promotor region of aldose reductase （AR） gene and type 2 diabetic nephropathy （DN） of Chinese. Methods ： A case-control study for 202 Chinese subjects was performed. The genotypes and alleles of polymorphisims of 894G→T at exon 7 of eNOS gene and C-106T at promotor region of AR gene were determined by polymerase chain reaction restriction fragment lenth polymorphism method （PCR-RFLP）. Results：The frequency of the T allele and TG genotype at exon 7 of eNOS gene and the T allele and CT genotype at promotor region of AR gene were significantly higher in DN ＋ group than that in DN- group and control group （P 〈0.05） , there was no significant difference between DM and control group （ P 〉 0.05 ）. The type 2 diabetes with coexistence of the T allele/TG genotype of eNOS gene and T allele/CT genotype of AR gene had higher incidence of DN （ P 〈 0.05 ）. Conclusion ： The T allele/TG genotype at exon 7 of eNOS gene and T allele/CT genotype at promotor region of AR gene are related to type 2 DN of Chinese. The higher incidence of DN is in patients who have TGCT genotype.

关 键 词：2型糖尿病 糖尿病肾病 内皮细胞型一氧化氮合成酶基因 醛糖还原酶基因 基因多态性 

分 类 号：R587.1[医药卫生—内分泌]