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趋化因子受体CCR5基因多态性与恰加斯病性心肌病

Chemokine receptor CCR5 polymorphisms and Chagas' disease cardiomyopathy.

作者信息

Calzada J E, Nieto A, Beraún Y, Martín J

机构信息

Instituto de Parasitología y Biomedicina López Neyra, CSIC, C/Ventanilla 11, 18001 Granada, Spain.

出版信息

Tissue Antigens. 2001 Sep;58(3):154-8. doi: 10.1034/j.1399-0039.2001.580302.x.

Abstract

In this study we investigated the possible role of two CCR5 gene polymorphisms, CCR5Delta32 deletion and CCR5 59029 A-->G promoter point mutation, in determining the susceptibility to Trypanosoma cruzi infection as well as in the development of chagasic heart disease. These CCR5 polymorphisms were assessed in 85 seropositive (asymptomatic, n=53; cardiomyopathic, n=32) and 87 seronegative individuals. The extremely low frequency (0.009) of the CCR5Delta32 allele in our population did not allow us to analyse its possible influence on T. cruzi infection. We found no differences in the distribution of CCR5 59029 promoter genotype or phenotype frequencies between total chagasic patients and controls. However, we observed that the CCR5 59029-A/G genotype was significantly increased in asymptomatic with respect to cardiomyopathic patients (P=0.02; OR=0.33, 95% CI 0.10-0.94). In addition, the presence of the CCR5 59029-G allele was also increased in asymptomatics when compared with cardiomyopathics (P=0.02; OR=0.35, 95% CI 0.12-0.96). Our data suggest that the CCR5 59029 promoter polymorphism may be involved in a differential susceptibility to chagasic cardiomyopathy.

摘要

在本研究中,我们调查了两种CCR5基因多态性,即CCR5Δ32缺失和CCR5 59029 A→G启动子点突变,在决定克氏锥虫感染易感性以及恰加斯心脏病发展过程中可能发挥的作用。在85名血清阳性个体(无症状者,n = 53;心肌病患者,n = 32)和87名血清阴性个体中评估了这些CCR5多态性。我们人群中CCR5Δ32等位基因的频率极低(0.009),这使我们无法分析其对克氏锥虫感染的可能影响。我们发现,在所有恰加斯病患者和对照组之间,CCR5 59029启动子基因型或表型频率的分布没有差异。然而,我们观察到,与心肌病患者相比,无症状患者中CCR5 59029 - A/G基因型显著增加(P = 0.02;比值比= 0.33,95%置信区间0.10 - 0.94)。此外,与心肌病患者相比,无症状患者中CCR5 59029 - G等位基因的存在也有所增加(P = 0.02;比值比= 0.35,95%置信区间0.12 - 0.96)。我们的数据表明,CCR5 59029启动子多态性可能与恰加斯性心肌病的易感性差异有关。

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