巴西南部和东南部的 基因多态性与恰加斯病。
Genetic Polymorphisms of and Chagas Disease in the South and Southeast of Brazil.
机构信息
Post Graduation Program of Biosciences and Physiopathology, Department of Analysis Clinical and Biomedicine, Maringa State University, Maringa, PR, Brazil.
Laboratory of Immunogenetics, Department of Molecular Biology, Medical School, São José do Rio Preto, SP, Brazil.
出版信息
J Immunol Res. 2017;2017:1017621. doi: 10.1155/2017/1017621. Epub 2017 Apr 2.
The aim of this study was to investigate possible associations between genetic polymorphisms of G197A (rs2275913) and T7488C (rs763780) with Chagas Disease (CD) and/or the severity of left ventricular systolic dysfunction (LVSD) in patients with chronic Chagas cardiomyopathy (CCC). The study with 260 patients and 150 controls was conducted in the South and Southeast regions of Brazil. The genotyping was performed by PCR-RFLP. The A allele and A/A genotype of were significantly increased in patients and their subgroups (patients with CCC; patients with CCC and LVSD; and patients with CCC and severe LVSD) when compared to the control group. The analysis according to the gender showed that the A/A genotype of was more frequent in female with LVSD and mild to moderate LVSD and also in male patients with LVSD. The frequency of T/C genotype was higher in male patients with CCC and severe LVSD and in female with mild to moderate LVSD. The results suggest the possible involvement of the polymorphisms of and in the susceptibility to chronic Chagas disease and in development and progression of cardiomyopathy.
本研究旨在探讨 G197A(rs2275913)和 T7488C(rs763780)基因多态性与恰加斯病(CD)和/或慢性恰加斯心肌病(CCC)患者左心室收缩功能障碍(LVSD)严重程度之间的可能关联。该研究纳入了 260 名患者和 150 名对照，在巴西南部和东南部进行。采用 PCR-RFLP 进行基因分型。与对照组相比，患者及其亚组(CCC 患者；CCC 和 LVSD 患者；以及 CCC 和严重 LVSD 患者)中 等位基因和 A/A 基因型显著增加。根据性别分析显示，LVSD 和轻度至中度 LVSD 的女性以及 LVSD 的男性患者中， 基因的 A/A 基因型更为常见。在 CCC 和严重 LVSD 的男性患者以及轻度至中度 LVSD 的女性患者中， 基因的 T/C 基因型频率更高。研究结果提示， 基因多态性可能与慢性恰加斯病的易感性以及心肌病的发生和发展有关。
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