Silva Silene Jacinto da, Rassi Salvador, Pereira Alexandre da Costa
Ciências da Saúde, Faculdade de Medicina, Universidade Federal de Goiás, Goiânia, GO, Brazil.
Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Arq Bras Cardiol. 2017 Oct;109(4):307-312. doi: 10.5935/abc.20170137. Epub 2017 Sep 28.
Changes in the angiotensin-converting enzyme (ACE) gene may contribute to the increase in blood pressure and consequently to the onset of heart failure (HF). The role of polymorphism is very controversial, and its identification in patients with HF secondary to Chagas disease in the Brazilian population is required.
To determine ACE polymorphism in patients with HF secondary to Chagas disease and patients with Chagas disease without systolic dysfunction, and to evaluate the relationship of the ACE polymorphism with different clinical variables.
This was a comparative clinical study with 193 participants, 103 of them with HF secondary to Chagas disease and 90 with Chagas disease without systolic dysfunction. All patients attended the outpatient department of the General Hospital of the Federal University of Goias general hospital. Alleles I and D of ACE polymorphism were identified by polymerase chain reaction of the respective intron 16 fragments in the ACE gene and visualized by electrophoresis.
In the group of HF patients, 63% were male, whereas 53.6% of patients with Chagas disease without systolic dysfunction were female (p = 0,001). The time from diagnosis varied from 1 to 50 years. Distribution of DD, ID and II genotypes was similar between the two groups, without statistical significance (p = 0,692). There was no difference in clinical characteristics or I/D genotypes between the groups. Age was significantly different between the groups (p = 0,001), and mean age of patients with HF was 62.5 years.
No differences were observed in the distribution of (Insertion/Deletion) genotype frequencies of ACE polymorphism between the studied groups. The use of this genetic biomarker was not useful in detecting a possible relationship between ACE polymorphism and clinical manifestations in HF secondary to Chagas disease.
血管紧张素转换酶(ACE)基因的变化可能导致血压升高,进而引发心力衰竭(HF)。该基因多态性的作用极具争议,因此需要在巴西人群中对患有恰加斯病继发心力衰竭的患者进行基因多态性鉴定。
确定恰加斯病继发心力衰竭患者以及无收缩功能障碍的恰加斯病患者的ACE基因多态性,并评估ACE基因多态性与不同临床变量之间的关系。
这是一项对比性临床研究,共有193名参与者,其中103名患有恰加斯病继发心力衰竭,90名患有恰加斯病但无收缩功能障碍。所有患者均前往戈亚斯联邦大学总医院门诊部就诊。通过对ACE基因中各自的第16内含子片段进行聚合酶链反应来鉴定ACE基因多态性的I和D等位基因,并通过电泳进行可视化分析。
在心力衰竭患者组中,63%为男性,而在无收缩功能障碍的恰加斯病患者中,53.6%为女性(p = 0.001)。从诊断到现在的时间跨度为1至50年。两组之间DD、ID和II基因型的分布相似,无统计学意义(p = 0.692)。两组之间的临床特征或I/D基因型无差异。两组之间年龄存在显著差异(p = 0.001),心力衰竭患者的平均年龄为62.5岁。
在研究组之间,未观察到ACE基因多态性(插入/缺失)基因型频率分布的差异。使用这种基因生物标志物对于检测ACE基因多态性与恰加斯病继发心力衰竭临床表现之间的可能关系并无帮助。