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目的遗传因素对糖尿病肾病发病(DN)有重要影响,探讨一氧化氮合酶(ecNOS)第4个内含子一个27bp的插入/缺失(a/b)多态性与DN患者体内NO水平的关系。方法应用PCR方法检测了37例健康对照者(NC)与84例2型糖尿病(DM)患者的eNOS基因a/b基因型,并测定上述人群空腹血清一氧化氮代谢物(NOx)水平。DM组患者根据清蛋白排泄率又分为3组,即正常清蛋白尿组(DM1组)、微量清蛋白尿组(DM2组)、大量清蛋白尿组(DM3组)。结果(1)DM各组a等位基因和aa+ab基因型频率明显高于对照组(χ2=3.91to4.28,P<0.05;χ2=17.16to36.05,P<0.01)。DM1组a等位基因及aa+ab基因型频率显著低于DM2及DM3组(χ2=4.17to4.64,P<0.05;χ2=8.23to9.21,P<0.01)。(2)NC组aa+ab基因型空腹血清NOx明显低于bb基因型(t=2.30,P<0.05)。(3)血清NOx在DM1组较NC组有明显的升高(u=2.35,P<0.05),但在DM2,DM3组却较NC组有显著的降低(u=1.68,P>0.05)。结论eNOS基因a/b多态性与DN患者体内NO水平有关,eNOS基因可能通过减少NO的释放而引起DN的发病。因此可以通过对携带a等位基因的DM患者进行早期干预而减缓DN的发生,提高患者生活质量。
Objective Genetic factors have an important influence on the pathogenesis of diabetic nephropathy (DN). To investigate the association of a 27 bp insertion / deletion (a / b) polymorphism of intron 4 of nitric oxide synthase (ecNOS) with the level of NO in DN patients relationship. Methods The eNOS gene a / b genotypes of 37 healthy controls (NC) and 84 patients with type 2 diabetes mellitus (DM) were detected by PCR and the fasting serum nitric oxide metabolites (NOX) were measured. According to the albumin excretion rate, patients in DM group were further divided into three groups: normal albuminuria group (DM1 group), microalbuminuria group (DM2 group) and large albuminuria group (DM3 group). Results (1) The frequencies of a allele and aa + ab genotype in DM group were significantly higher than those in control group (χ2 = 3.91to4.28, P <0.05; χ2 = 17.16to36.05, P <0.01). The frequencies of a allele and aa + ab genotype in DM1 group were significantly lower than those in DM2 and DM3 group (χ2 = 4.17to4.64, P <0.05; χ2 = 8.23to9.21, P <0.01). (2) The fasting serum NO of aa + ab genotype of NC group was significantly lower than that of bb genotype (t = 2.30, P <0.05). (3) The level of serum NOX in DM1 group was significantly higher than that in NC group (u = 2.35, P <0.05), but was significantly lower in DM2 and DM3 groups than that in NC group (u = 1.68, P> 0.05). Conclusion The eNOS gene a / b polymorphism is associated with the level of NO in DN patients. The eNOS gene may induce the pathogenesis of DN by decreasing the release of NO. Therefore, it is possible to slow down the occurrence of DN and improve the quality of life of patients through early intervention in DM patients carrying a allele.