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Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil

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 100,00...

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Autores principales: Castellucci, Léa Cristina, de Almeida, Lucas Frederico, Jamieson, Sarra Elisabeth, Fakiola, Michaela, de Carvalho, Edgar Marcelino, Blackwell, Jenefer Mary
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Oswaldo Cruz, Ministério da Saúde 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131779/
https://www.ncbi.nlm.nih.gov/pubmed/24863979
http://dx.doi.org/10.1590/0074-0276140028
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author Castellucci, Léa Cristina
de Almeida, Lucas Frederico
Jamieson, Sarra Elisabeth
Fakiola, Michaela
de Carvalho, Edgar Marcelino
Blackwell, Jenefer Mary
author_facet Castellucci, Léa Cristina
de Almeida, Lucas Frederico
Jamieson, Sarra Elisabeth
Fakiola, Michaela
de Carvalho, Edgar Marcelino
Blackwell, Jenefer Mary
author_sort Castellucci, Léa Cristina
collection PubMed
description 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.
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spelling pubmed-41317792014-08-14 Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil Castellucci, Léa Cristina de Almeida, Lucas Frederico Jamieson, Sarra Elisabeth Fakiola, Michaela de Carvalho, Edgar Marcelino Blackwell, Jenefer Mary Mem Inst Oswaldo Cruz Review 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. Instituto Oswaldo Cruz, Ministério da Saúde 2014-05-27 2014-06 /pmc/articles/PMC4131779/ /pubmed/24863979 http://dx.doi.org/10.1590/0074-0276140028 Text en http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Castellucci, Léa Cristina
de Almeida, Lucas Frederico
Jamieson, Sarra Elisabeth
Fakiola, Michaela
de Carvalho, Edgar Marcelino
Blackwell, Jenefer Mary
Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil
title Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil
title_full Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil
title_fullStr Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil
title_full_unstemmed Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil
title_short Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil
title_sort host genetic factors in american cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of brazil
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131779/
https://www.ncbi.nlm.nih.gov/pubmed/24863979
http://dx.doi.org/10.1590/0074-0276140028
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