ACAT-1 gene rs1044925 SNP and its relation with different clinical forms of chronic Chagas disease
ACAT-1 gene rs1044925 SNP and its relation with different clinical forms of chronic Chagas disease
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DOI：
10.1007/s00436-019-06377-9
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发表时间：
2019-08-01
影响因子：
2
通讯作者：
dos Santos, Rodrigo Mattos
中科院分区：
文献类型：
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作者：
Carvalho, Thaysa Buss;Padovani, Carlos Roberto;dos Santos, Rodrigo Mattos
查加斯病，由原生动物克氏锥虫（T。Cruzi），尽管在世纪以前就被发现，但仍然是一个没有很好阐明的方面。处于疾病的慢性期的个体可呈现与心脏、消化系统或两者相关的无症状临床形式或病理学（混合临床形式）。SNP（单核苷酸多态性）已被确定为重要的标记，因为它们构成人类基因组中约90%的变异。其中之一定位于ACAT-1基因（胆固醇酰基转移酶1）（rs 1044925），并与脂质紊乱有关。一些研究表明T. cruzi和宿主的脂质代谢。因此，本研究的目的是评估ACAT-1基因rs 1044925 SNP与慢性恰加斯病患者临床表现之间的关联。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名心脏临床型，18名消化型和9名混合型）参加了这项研究。采用PCR-RFLP技术对多态性进行分析。ACAT-1基因的AA和AC基因型在无症状性chagglutinin患者中的频率较高（分别为p=0.047和p=0.016），差异有统计学意义。结果表明，rs 1044925 SNP的AA和AC基因型与慢性chagglutinin个体中疾病的症状性临床表现的存在有关，具有保护性特征。
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.