Castellucci Léa Cristina, Almeida Lucas Frederico de, Jamieson Sarra Elisabeth, Fakiola Michaela, Carvalho Edgar Marcelino de, Blackwell Jenefer Mary
Instituto Nacional de Ciência e Tecnologia em Doenças Tropicais, Universidade Federal da Bahia, Salvador, BA, Brasil.
Telethon Kids Institute, The University of Western Australi, Perth, Australia.
Mem Inst Oswaldo Cruz. 2014 Jun;109(3):279-88. doi: 10.1590/0074-0276140028. Epub 2014 May 27.
American cutaneous leishmaniasis (ACL) is a vector-transmitted infectious disease with an estimated 1.5 million new cases per year. In Brazil, ACL represents a significant public health problem, with approximately 30,000 new reported cases annually, representing an incidence of 18.5 cases per 100,000 inhabitants. Corte de Pedra is in a region endemic for ACL in the state of Bahia (BA), northeastern Brazil, with 500-1,300 patients treated annually. Over the last decade, population and family-based candidate gene studies were conducted in Corte de Pedra, founded on previous knowledge from studies on mice and humans. Notwithstanding limitations related to sample size and power, these studies contribute important genetic biomarkers that identify novel pathways of disease pathogenesis and possible new therapeutic targets. The present paper is a narrative review about ACL immunogenetics in BA, highlighting in particular the interacting roles of the wound healing gene FLI1 with interleukin-6 and genes SMAD2 and SMAD3 of the transforming growth factor beta signalling pathway. This research highlights the need for well-powered genetic and functional studies on Leishmania braziliensis infection as essential to define and validate the role of host genes in determining resistance/susceptibility regarding this disease.
美洲皮肤利什曼病（ACL）是一种由媒介传播的传染病，估计每年有150万新发病例。在巴西，ACL是一个重大的公共卫生问题，每年报告的新病例约为30000例，发病率为每10万人中有18.5例。科尔特德佩德拉位于巴西东北部巴伊亚州（BA）ACL的地方性流行区域，每年有500 - 1300名患者接受治疗。在过去十年中，基于之前对小鼠和人类研究的知识，在科尔特德佩德拉开展了基于人群和家庭的候选基因研究。尽管存在样本量和检验效能方面的局限性，但这些研究贡献了重要的遗传生物标志物，可识别疾病发病机制的新途径和可能的新治疗靶点。本文是一篇关于巴伊亚州ACL免疫遗传学的叙述性综述，特别强调了伤口愈合基因FLI1与白细胞介素 - 6以及转化生长因子β信号通路的SMAD2和SMAD3基因的相互作用。这项研究强调，对巴西利什曼原虫感染进行检验效能充足的遗传和功能研究对于确定和验证宿主基因在决定对该疾病的抗性/易感性方面的作用至关重要。
