GENETICS, EVOLUTION, AND PHYLOGENY - ORIGINAL PAPER ACAT-1 gene rs1044925 SNP and its relation with different clinical forms of chronic Chagas disease Thaysa Buss Carvalho 1 & Carlos Roberto Padovani 2 & Luiz Roberto de Oliveira Júnior 1 & Ana Carla Pereira Latini 1,3 & Cilmery Suemi Kurokawa 1,4 & Paulo Câmara Marques Pereira 1 & Rodrigo Mattos dos Santos 1 Received: 24 January 2019 /Accepted: 10 June 2019 # Springer-Verlag GmbH Germany, part of Springer Nature 2019 Abstract 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 symp- tomatologies 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. Keywords Chagas disease . Single nucleotide polymorphisms (SNPs) . ACAT-1 . Molecular markers Introduction Chagas disease caused by the protozoan Trypanosoma cruzi is still endemic in many countries (Andrade et al. 2014). According to the World Health Organization, it is estimated that eight million people around the world are infected and the infection has spread to non-endemic regions (WHO 2013). In the USA, for example, about 300,000 people are infected (CDC 2006). In Brazil, it is estimated that between two and three million people have acquired the disease and 600,000 have symptoms related to the chronic phase (Bello Corassa et al. 2017). The disease has two clinical phases: acute and chronic. In the acute phase, individuals present high parasitemia and non- specific symptoms such as malaise, fever, hepatosplenomegaly, and atypical lymphocytosis (Bern 2015). After 2 to 4 months, individuals enter the chronic phase of the disease and may present asymptomatic clinical form or symptomatologies related to the cardiac, digestive systems, or both (mixed clinical form) (Dutra et al. 2009). Approximately 70% of the infected individuals have an undetermined clinical form of the disease (Rassi et al. 2012) and presents no abnormalities in physical and radiological exams or symptoms of the disease (Dias et al. 2016). Section Editor: Sarah Hendrickx * Thaysa Buss Carvalho thata_carv@hotmail.com 1 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 2 Departament of Bioestatistics, Botucatu Biosciences Institute São Paulo State University (UNESP—Univ Estadual Paulista), São Paulo, Brazil 3 Departament of Molecular Biology, Lauro de Souza Lima Institute, São Paulo, Brazil 4 Departament of Pediatrics, Botucatu Medical School, São Paulo State University (UNESP—Univ Estadual Paulista), São Paulo, Brazil Parasitology Research https://doi.org/10.1007/s00436-019-06377-9