摘要
目的 探讨内皮型一氧化氮合酶 (eNOS)基因 2 7bp数目可变的串联重复序列 (VNTR)多态性与糖尿病肾病 (DN)的关系。 方法 应用PCR方法检测了 32名健康对照者与 84例 2型糖尿病 (T2DM )患者的eNOS基因a/b基因型 ,用硝酸盐还原酶法测定上述人群空腹血清一氧化氮代谢物 (NOx)水平。并根据 2 4h尿白蛋白排泄率 (UAER)将 84例T2DM患者分为正常白蛋白尿 (UA1b)组 (DM1) ,微量UA1b组 (DM 2 )和大量UA1b组 (DM3)。 结果 (1)T2DM各组a等位基因频率显著高于对照组 ,T2DM各组aa +ab基因型频率明显高于对照组。DM1组a等位基因频率及aa +ab基因型频率高于DM2及DM 3组 ,但差异无显著意义。 (2 )NC组aa +ab基因型空腹血清NOx明显低于bb基因型。 (3)血清NOx在DM1组较NC组有明显的升高 ,但在DM2、DM3组却较NC组显著降低。 (4)T2DM患者中 ,aa +ab基因型UAER和血清肌酐 (Scr)水平显著高于bb基因型。 结论 eNOS基因 2 7bpVNTR多态性与DN发生有关 ,eNOS基因a等位基因是DN发生和发展的有用的预测标志。
Objective To investigate the association of the polymorphism of endothelial nitric oxide synthase (eNOS) 27 bp variable number of tandem repeats (VNTR) with diabetic nephropathy. Methods We examined 32 healthy controls and 84 cases with type 2 diabetes mellitus (DM). A 27 bp variable number of tandem repeats polymorphism of eNOS was identified by polymerase chain reaction (PCR). Fasting serum nitric oxide metabolites (NOx) of all the people were measured by nitrate reductase. DM patients were divided into three grouops according to UAER (DM1: UAER<20 μg/min ; DM2: UAER20～200 μg/min; DM3: UAER>200 μg/min). Results (1)The frequencies of allele a in all type 2 DM groups were significantly higher than that in control group. The frequencies of aa+ab genotype in all type 2 DM group were significantly higher than that in control group. The frequencies of allelea and aa+ab genotype in DM1 group were higher than that in DM2 and DM3 group. But the differences were not significant. (2) Fasting serum NOx in aa+ab genotype were significantly higher than that in bb genotype of control group. (3) Serum nitrites in DM1 was significantly higher than NC, but the NO levels of DM2 and DM3 were significantly lower than NC group. (4) The albumin excretion ratio and serum creatinine level in aa+ab genotype were significantly higher than that in bb genotype of DM group. Conclusion The polymorphism of eNOS gene 27 bp VNTR is associated with diabetic nephropathy. These results support that allele a of the eNOS gene would be a clinically useful genetic marker for predicting the development of diabetic nephropathy.
出处
《中国糖尿病杂志》
CAS
CSCD
2003年第5期317-320,共4页
Chinese Journal of Diabetes
