Laboratório de Genômica Funcional e Bioinformática-Instituto Oswaldo Cruz, Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil.
Laboratório de Pesquisa Clínica em doença de Chagas, Instituto Nacional de Infectologia Evandro Chagas, Rio de Janeiro, RJ, Brazil.
Dis Markers. 2018 Feb 18;2018:4579198. doi: 10.1155/2018/4579198. eCollection 2018.
Transforming growth factor 1 (TGF-1) is an important mediator in Chagas disease. Furthermore, patients with higher TGF-1 serum levels show a worse clinical outcome. Gene polymorphism may account for differences in cytokine production during infectious diseases. We tested whether polymorphisms could be associated with Chagas disease susceptibility and severity in a Brazilian population. We investigated five single-nucleotide polymorphisms (-800 G>A, -509 C>T, +10 T>C, +25 G>C, and +263 C>T). 152 patients with Chagas disease (53 with the indeterminate form and 99 with the cardiac form) and 48 noninfected subjects were included. Genotypes CT and TT at position -509 of the gene were more frequent in Chagas disease patients than in noninfected subjects. Genotypes TC and CC at codon +10 of the gene were also more frequent in Chagas disease patients than in noninfected subjects. We found no significant differences in the distribution of the studied polymorphisms between patients with the indeterminate or cardiac form of Chagas disease. Therefore, -509 C>T and +10 T>C polymorphisms are associated with Chagas disease susceptibility in a Brazilian population.
转化生长因子 1（TGF-1）是恰加斯病的重要介质。此外，血清 TGF-1 水平较高的患者临床预后较差。基因多态性可能导致感染性疾病期间细胞因子产生的差异。我们在巴西人群中检测了这些基因多态性是否与恰加斯病的易感性和严重程度相关。我们研究了五个单核苷酸多态性（-800 G>A、-509 C>T、+10 T>C、+25 G>C 和 +263 C>T）。纳入了 152 例恰加斯病患者（53 例为不确定型，99 例为心脏型）和 48 例未感染的对照者。基因-509 位 CT 和 TT 基因型在恰加斯病患者中比未感染的对照者更常见。基因+10 位 TC 和 CC 基因型在恰加斯病患者中也比未感染的对照者更常见。我们未发现研究的多态性在恰加斯病不确定型或心脏型患者中的分布有显著差异。因此，-509 C>T 和 +10 T>C 多态性与巴西人群中的恰加斯病易感性相关。
