Pei Y, Scholey J, Thai K, Suzuki M, Cattran D
Department of Medicine, Toronto Hospital, Toronto, Ontario, Canada M5G 2C4.
J Clin Invest. 1997 Aug 15;100(4):814-20. doi: 10.1172/JCI119596.
Genetic variability in the renin-angiotensin system may modify renal responses to injury and disease progression. We examined whether the M235T polymorphism of the angiotensinogen (AGT) gene, the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene, and the A1166--> C polymorphism of the angiotensin II type 1 receptor gene may be associated with disease progression in 168 Caucasian patients with IgA nephropathy. All patients had serial measurements of their creatinine clearance, proteinuria, and blood pressure (mean+/-SD) with a follow-up of 6.1+/-4.7 yr. The genotype frequencies for each gene were consistent with Hardy-Weinberg equilibrium, and were similar to those of 100 Caucasian control subjects. We examined two primary outcomes: (a) the rate of deterioration of Ccr, and (b) the maximal level of proteinuria. We found that patients with the AGT MT (n = 79) and TT (n = 29) genotypes had a faster rate of deterioration of Ccr than those with the MM (n = 60) genotype (i.e., median values, -6.6 and -6.2 vs. -3. 0 ml/min/yr, respectively; P = 0.01 by Kruskal-Wallis test). Similarly, patients with AGT MT and TT genotypes had higher maximal values of proteinuria than those with the MM genotype (i.e., median values, 2.5 and 3.5 vs. 2.0 g/d, respectively; P < 0.02 by Kruskal-Wallis test). Neither the ACE insertion/deletion nor angiotensin II type I A1166--> C gene polymorphism was associated with disease progression or proteinuria in univariate analysis. Multivariant analysis, however, detected an interaction between the AGT and ACE gene polymorphisms with the presence of ACE/DD polymorphism adversely affecting disease progression only in patients with the AGT/MM genotype (P = 0.008). Neither of these gene polymorphisms was associated with systemic hypertension. Our results suggest that polymorphisms at the AGT and ACE gene loci are important markers for predicting progression to chronic renal failure in Caucasian patients with IgA nephropathy.
肾素 - 血管紧张素系统的基因变异性可能会改变肾脏对损伤的反应以及疾病进展。我们研究了血管紧张素原(AGT)基因的M235T多态性、血管紧张素转换酶(ACE)基因的插入/缺失多态性以及血管紧张素II 1型受体基因的A1166→C多态性是否与168例白种人IgA肾病患者的疾病进展相关。所有患者均进行了肌酐清除率、蛋白尿和血压(均值±标准差)的系列测量,随访时间为6.1±4.7年。每个基因的基因型频率符合哈迪 - 温伯格平衡,且与100例白种人对照受试者相似。我们研究了两个主要结局:(a)肌酐清除率(Ccr)的恶化速率,以及(b)蛋白尿的最高水平。我们发现,AGT基因MT型(n = 79)和TT型(n = 29)的患者Ccr恶化速率比MM型(n = 60)患者更快(即中位数分别为-6.6和-6.2 vs. -3.0 ml/min/年;经Kruskal-Wallis检验,P = 0.01)。同样,AGT基因MT型和TT型患者的蛋白尿最高值高于MM型患者(即中位数分别为2.5和3.5 vs. 2.0 g/d;经Kruskal-Wallis检验,P < 0.02)。在单因素分析中,ACE基因的插入/缺失多态性和血管紧张素II 1型受体基因的A1166→C多态性均与疾病进展或蛋白尿无关。然而,多变量分析检测到AGT和ACE基因多态性之间存在相互作用,仅在AGT/MM基因型患者中,ACE/DD多态性的存在对疾病进展有不利影响(P = 0.008)。这些基因多态性均与系统性高血压无关。我们的结果表明,AGT和ACE基因位点的多态性是预测白种人IgA肾病患者进展为慢性肾衰竭的重要标志物。