Department of Tropical Diseases, Botucatu Medical School, São Paulo State University (UNESP - Univ Estadual Paulista), Laboratório de Moléstias Infecciosas - UNIPEX - FMB UNESP, Rua Dr. Walter Mauricio Correa s/n, São Paulo, Brazil.
Departament of Bioestatistics, Botucatu Biosciences Institute São Paulo State University (UNESP-Univ Estadual Paulista), São Paulo, Brazil.
Parasitol Res. 2019 Aug;118(8):2343-2351. doi: 10.1007/s00436-019-06377-9. Epub 2019 Jun 24.
Chagas disease, caused by the protozoan Trypanosoma cruzi (T. cruzi), although discovered more than a century ago, is still a not very well-elucidated aspect. Individuals in the chronic phase of the disease may present asymptomatic clinical form or symptomatologies related to the cardiac, digestive systems, or both (mixed clinical form). SNPs (single nucleotide polymorphisms) have been identified as important markers because they constitute about 90% of the variation in the human genome. One of them is localized to the ACAT-1 gene (cholesterol acyltransferase 1) (rs1044925) and has been linked to lipid disorders. Some studies have suggested the interaction between T. cruzi and the lipid metabolism of the host. Therefore, the objective of the present study was to evaluate the association between the ACAT-1 gene rs1044925 SNP in relation to clinical manifestations in patients with chronic Chagas disease. A total of 135 individuals with chronic Chagas disease, 86 (63.7%) asymptomatic individuals and 49 (36.3%) symptomatic patients (22 with cardiac clinical form, 18 with digestive form and 9 with mixed form) participated in the study. To evaluate the polymorphism, the PCR-RFLP technique were used. There was a significant difference and a higher frequency of AA and AC genotypes (p = 0.047 and p = 0.016, respectively) of the ACAT-1 gene in asymptomatic chagasic individuals. The result suggests a protective character of the AA and AC genotypes of the rs1044925 SNP in relation to the presence of symptomatic clinical manifestations of the disease in chronic chagasic individuals.
恰加斯病由原生动物克氏锥虫（T. cruzi）引起，尽管它在一个多世纪前就被发现，但仍有许多方面尚未得到充分阐明。该病慢性期的个体可能表现为无症状临床形式或与心脏、消化系统有关的症状（混合临床形式）。单核苷酸多态性（SNP）已被确定为重要的标志物，因为它们构成人类基因组变异的约 90%。其中之一位于 ACAT-1 基因（胆固醇酰基转移酶 1）（rs1044925），与脂质紊乱有关。一些研究表明，克氏锥虫与宿主的脂质代谢之间存在相互作用。因此，本研究的目的是评估慢性恰加斯病患者中 ACAT-1 基因 rs1044925 单核苷酸多态性与临床表现之间的关系。共有 135 名慢性恰加斯病患者，86 名（63.7%）无症状患者和 49 名（36.3%）有症状患者（22 名心脏临床形式，18 名消化形式和 9 名混合形式）参与了研究。为了评估多态性，使用了 PCR-RFLP 技术。无症状恰加斯病个体中 ACAT-1 基因的 AA 和 AC 基因型（p=0.047 和 p=0.016）的差异和频率均较高。结果表明，rs1044925 SNP 的 AA 和 AC 基因型与慢性恰加斯病个体出现症状性临床表现有关，具有保护作用。
