Calzada Jose E, Beraún Yasmina, González Clara I, Martín Javier
Instituto Conmemorativo Gorgas de Estudios de la Salud, P.O. Box 0816-02593, Panama.
Cytokine. 2009 Mar;45(3):149-53. doi: 10.1016/j.cyto.2008.11.013. Epub 2009 Jan 10.
Susceptibility to Chagas disease infections and its clinical manifestations may be influenced by host genetic factors. Among cytokines, the multifunctional transforming growth factor beta 1 (TGFbeta1), plays a major role in the establishment and pathogenesis of Trypanosoma cruzi infection, the etiological agent of Chagas disease. Several single-nucleotide polymorphisms (SNP) in the TGFbeta1 gene that may affect cytokine production have been described. We investigated, by PCR methods, five SNP in the TGFbeta1 gene of known or suggested functional significance (-988 C/A; -800 G/A; -509 C/T; 10 T/C and 263 C/T) in 347 seropositive (asymptomatic, n=175; cardiomyopathic, n=172) and 279 seronegative unrelated individuals from a Peruvian and a Colombian population where T. cruzi is highly endemic. We found a significant difference in the distribution of the TGFbeta1 10T and 10C alleles between patients and healthy controls in both cohorts, analyzed independently and combined. The frequency of the high TGFbeta1 producer genotype 10 C/C was increased in the patients groups of both populations. Our data suggests that TGFbeta1 genetic polymorphisms at codon 10 may be involved in a differential susceptibility to T. cruzi infection in these South American samples.
恰加斯病感染的易感性及其临床表现可能受宿主遗传因素影响。在细胞因子中，多功能转化生长因子β1（TGFβ1）在恰加斯病的病原体——克氏锥虫感染的建立和发病机制中起主要作用。已描述了TGFβ1基因中几个可能影响细胞因子产生的单核苷酸多态性（SNP）。我们采用聚合酶链反应（PCR）方法，对来自秘鲁和哥伦比亚人群的347名血清阳性个体（无症状者，n = 175；心肌病患者，n = 172）和279名血清阴性的无关个体，检测了TGFβ1基因中已知或推测具有功能意义的5个SNP（-988 C/A；-800 G/A；-509 C/T；10 T/C和263 C/T），这些地区克氏锥虫高度流行。在两个队列中，分别分析和合并分析时，我们发现患者和健康对照之间TGFβ1 10T和10C等位基因的分布存在显著差异。两个群体的患者组中，高TGFβ1产生基因型10 C/C的频率均增加。我们的数据表明，密码子10处的TGFβ1基因多态性可能与这些南美样本中对克氏锥虫感染的易感性差异有关。
