Department of Biochemistry and Immunology of Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Department of Biochemistry and Immunology of Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil; International Research Center, A.C. Camargo Cancer Center, São Paulo, Brazil.
Infect Genet Evol. 2021 Mar;88:104671. doi: 10.1016/j.meegid.2020.104671. Epub 2020 Dec 7.
Chagas disease is caused by the protozoan parasite Trypanosoma cruzi. During the chronic phase of disease, while most infected people do not present symptoms, characterizing the asymptomatic form, some patients develop the cardiac form or chronic chagasic cardiomyopathy, which is considered the most severe manifestation of this disease. Considering that the activation of the PI3Kγ signaling pathway is essential for an efficient immune response against T. cruzi infection, we evaluated the PIK3CG C > T (rs1129293) polymorphism in exon 3 of this gene, which encodes the catalytic subunit of PI3Kγ. The PIK3CG CT and TT genotypes were found to be associated with an increased risk of developing the cardiac form of the disease rather than the asymptomatic or digestive forms. In conclusion, the presence of the T allele at single or double doses may differentiate the cardiac from other clinical manifestations of Chagas disease. This finding should help in further studies to evaluate the mechanisms underlying the differential association of PIK3CG in Chagas disease.
恰加斯病由原生动物寄生虫克氏锥虫引起。在疾病的慢性期，虽然大多数感染者没有症状，表现为无症状形式，但一些患者会发展为心脏形式或慢性恰加斯心肌病，这被认为是这种疾病最严重的表现。考虑到 PI3Kγ 信号通路的激活对于针对 T. cruzi 感染的有效免疫反应至关重要，我们评估了该基因外显子 3 中编码 PI3Kγ 催化亚基的 PIK3CG C>T(rs1129293)多态性。发现 PIK3CG CT 和 TT 基因型与发生心脏形式疾病的风险增加相关，而不是无症状或消化形式。总之，单个或双剂量 T 等位基因的存在可能将心脏形式与恰加斯病的其他临床表现区分开来。这一发现有助于进一步研究，以评估 PIK3CG 在恰加斯病中差异关联的潜在机制。
