Huo P, Zhang D, Guan X, Mei Y, Zheng H, Feng X
Department of Nephrology, General Hospital of Shenyang Military Area Command, No.83,Wenhua Road, Shenhe District, Shenyang, 110840, People's Republic of China.
Mol Biol Rep. 2015 Jan;42(1):27-33. doi: 10.1007/s11033-014-3736-y. Epub 2014 Sep 17.
Diabetic nephropathy (DN) is the leading cause of end-stage renal disease, with multiple genetic and environmental factors involving in its etiology. ACE and eNOS gene were considered to have important roles in the development and progression of DN. In this study, a case-control study was carried out to investigate the effects of 7 SNPs in ACE gene and 2 SNPs in eNOS gene in the development of DN in Northern China.7 SNPs including A240T, A2350G, A5466C, A2215G, T3892C, C1237T and C3409T of ACE gene and 2 SNPs (G894T and T786C) of eNOS gene were genotyped by polymerase chain reaction restriction fragment length polymorphism method. 431 type 2 diabetic patients with nephropathy (cases) were compared to 420 type 2 diabetic patients without nephropathy (controls) in the study. Data were analyzed by SPSS 17.0 and HaploView software. The frequency distribution of A2350G, 4 haplotyps in ACE gene and G894T in eNOS gene were demonstrated to be different between case and control groups significantly. Whereas other SNPs and haplotypes had no differences in two cohorts. The results revealed that variations of ACE and eNOS gene had association with DN, which indicated ACE and eNOS gene may play an important role in pathogenesis of DN in Northern Chinese Han population.
糖尿病肾病(DN)是终末期肾病的主要病因,其病因涉及多种遗传和环境因素。血管紧张素转换酶(ACE)基因和内皮型一氧化氮合酶(eNOS)基因被认为在DN的发生和发展中起重要作用。本研究采用病例对照研究方法,探讨中国北方地区ACE基因的7个单核苷酸多态性(SNP)和eNOS基因的2个SNP在DN发生中的作用。采用聚合酶链反应-限制性片段长度多态性方法对ACE基因的A240T、A2350G、A5466C、A2215G、T3892C、C1237T和C3409T这7个SNP以及eNOS基因的2个SNP(G894T和T786C)进行基因分型。研究中,将431例2型糖尿病肾病患者(病例组)与420例无肾病的2型糖尿病患者(对照组)进行比较。数据采用SPSS 17.0和HaploView软件进行分析。结果显示,病例组与对照组之间A2350G、ACE基因的4种单倍型以及eNOS基因的G894T的频率分布存在显著差异。而其他SNP和单倍型在两组中无差异。结果表明,ACE基因和eNOS基因的变异与DN有关,这表明ACE基因和eNOS基因可能在中国北方汉族人群DN的发病机制中起重要作用。