Role of the IFNG +874T/A polymorphism in Chagas disease in a Colombian population.
Role of the IFNG +874T/A polymorphism in Chagas disease in a Colombian population.
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DOI：
10.1016/j.meegid.2010.03.009
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发表时间：
2010-07
期刊：
影响因子：
--
通讯作者：
Martín J
中科院分区：
文献类型：
--
作者：
Torres OA;Calzada JE;Beraún Y;Morillo CA;González A;González CI;Martín J
克氏锥虫感染的遗传易感性和心肌病的发生发展是复杂的、异质性的，可能涉及多个基因。以前的研究表明，细胞因子和趋化因子基因与恰加斯病的易感性有关。在这里，我们调查了干扰素-γ基因(IFNG)+874T/A多态与恰加斯病的关系，重点是易感性和严重程度。这项研究包括236名查格斯病患者(无症状，n=1116；心肌病，n=1120)和282名健康对照，来自科鲁兹旋毛虫高度流行的哥伦比亚人群。通过扩增难耐突变系统聚合酶链式反应(ARMS-PCR)对个体进行IFNG基因功能性单核苷酸多态(SNP；rs2430561；A/T)分型。并对患者的临床表现进行了分析。我们发现IFNG874A等位基因在患者和健康对照组之间的分布差异有统计学意义(P<0.003)，OR=1.46，95%CI，1.13~1.89。与干扰素-γ产生减少相关的IFNG+874基因A/A频率在患者组中较对照组增加(38.1%比26.6%)。我们比较了无症状心肌病患者和无症状心肌病患者的IFNG等位基因和基因频率，发现无症状心肌病患者和无症状心肌病患者的IFNG基因频率无显著差异。我们的数据表明，IFNG+874T/A基因多态可能与哥伦比亚查加斯病的易感性有关，但与恰加斯病的进展无关。
Genetic susceptibility to Trypanosoma cruzi infection and the development of cardiomyopathy is complex, heterogeneous, and likely involves several genes. Previous studies have implicated cytokine and chemokine genes in susceptibility to Chagas disease. Here we investigated the association between the interferon-gamma gene (IFNG) +874T/A polymorphism and Chagas disease, focusing on susceptibility and severity. This study included 236 chagasic patients (asymptomatic, n = 116; cardiomyopathic, n = 120) and 282 healthy controls from a Colombian population where T. cruzi is highly endemic. Individuals were genotyped for functional single nucleotide polymorphism (SNP; rs2430561; A/T) of the IFNG gene by amplification refractory mutational system PCR (ARMS-PCR). Moreover, clinical manifestations of Chagas in patients were analyzed. We found a significant difference in the distribution of the IFNG +874 “A” allele between patients and healthy controls (P = 0.003; OR = 1.46, 95% CI, 1.13–1.89). The frequency of the IFNG +874 genotype A/A, which is associated with reduced production of interferon-gamma, was increased in the patients relative to controls (38.1% vs. 26.6%). We compared the frequencies of IFNG alleles and genotypes between asymptomatic patients and those with chagasic cardiomyopathy and found no significant difference. Our data suggest that the IFNG +874T/A genetic polymorphism may be involved in susceptibility but not in the progression of Chagas disease in this Colombian population.
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DOI：
10.1084/jem.175.1.169
发表时间：
1992-01-01
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Silva JS;Morrissey PJ;Grabstein KH;Mohler KM;Anderson D;Reed SG
通讯作者：
Reed SG
影响因子：
3.1
作者：
Gomes, JAS;Bahia-Oliveira, LMG;Correa-Oliveira, R
通讯作者：
Correa-Oliveira, R
影响因子：
3.1
作者：
Cardillo, F;Voltarelli, JC;Silva, JS
通讯作者：
Silva, JS
影响因子：
--
作者：
Nieto, A;Beraún, Y;Martín, J
通讯作者：
Martín, J
影响因子：
2.4
作者：
Gutierrez, R;Angulo, VM;Fernandes, O
通讯作者：
Fernandes, O