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美洲皮肤利什曼病中的宿主遗传因素:对巴西一个流行地区开展的研究的批判性评估

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

作者信息

Castellucci Léa Cristina, Almeida Lucas Frederico de, Jamieson Sarra Elisabeth, Fakiola Michaela, Carvalho Edgar Marcelino de, Blackwell Jenefer Mary

机构信息

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.

出版信息

Mem Inst Oswaldo Cruz. 2014 Jun;109(3):279-88. doi: 10.1590/0074-0276140028. Epub 2014 May 27.


DOI:10.1590/0074-0276140028
PMID:24863979
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4131779/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d96d/4131779/263714b6e781/0074-0276-mioc-109-03-00279-gf02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d96d/4131779/10884785c04d/0074-0276-mioc-109-03-00279-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d96d/4131779/263714b6e781/0074-0276-mioc-109-03-00279-gf02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d96d/4131779/10884785c04d/0074-0276-mioc-109-03-00279-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d96d/4131779/263714b6e781/0074-0276-mioc-109-03-00279-gf02.jpg

相似文献

[1]
Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil.

Mem Inst Oswaldo Cruz. 2014-6

[2]
Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil.

Infect Genet Evol. 2012-3-28

[3]
Dynamics of American tegumentary leishmaniasis in a highly endemic region for Leishmania (Viannia) braziliensis infection in northeast Brazil.

PLoS Negl Trop Dis. 2017-11-2

[4]
[Comparative study of American tegumentary leishmaniasis between childhood and teenagers from the endemic areas Buriticupu, Maranhao and Corte de Pedra, Bahia, Brazil].

Rev Soc Bras Med Trop. 1998

[5]
Atypical Manifestations of Cutaneous Leishmaniasis in a Region Endemic for Leishmania braziliensis: Clinical, Immunological and Parasitological Aspects.

PLoS Negl Trop Dis. 2016-12-1

[6]
Epidemiological and clinical changes in American tegumentary leishmaniasis in an area of Leishmania (Viannia) braziliensis transmission over a 20-year period.

Am J Trop Med Hyg. 2012-3

[7]
[Risk factors for cutaneous leishmaniasis transmission in children aged 0 to 5 years in an endemic area of Leishmania (Viannia) braziliensis].

Cad Saude Publica. 2005

[8]
Association between HLA genes and American cutaneous leishmaniasis in endemic regions of Southern Brazil.

BMC Infect Dis. 2013-5-2

[9]
Cutaneous leishmaniasis in northeastern Brazil: a critical appraisal of studies conducted in State of Pernambuco.

Rev Soc Bras Med Trop. 2012-7-26

[10]
[Socioeconomic factors and attitudes towards household prevention of American cutaneous leishmaniasis in an endemic area in Southern Bahia, Brazil].

Cad Saude Publica. 2000

引用本文的文献

[1]
Investigation of parasite genetic variation and systemic immune responses in patients presenting with different clinical presentations of cutaneous leishmaniasis caused by Leishmania aethiopica.

Infect Dis Poverty. 2024-10-16

[2]
Spectrum of bacterial pathogens in inflammatory and noninflammatory cutaneous ulcers of American tegumentary leishmaniasis.

Ther Adv Infect Dis. 2024-9-10

[3]
The Association of Human Leucocyte Antigen (HLA) Class I and II Genes with Cutaneous and Visceral Leishmaniasis in Iranian Patients: A Preliminary Case-Control Study.

Iran J Parasitol. 2023

[4]
The paradigm of intracellular parasite survival and drug resistance in leishmanial parasite through genome plasticity and epigenetics: Perception and future perspective.

Front Cell Infect Microbiol. 2023

[5]
Raising the suspicion of a non-autochthonous infection: identification of Leishmania guyanensis from Costa Rica exhibits a Leishmaniavirus related to Brazilian north-east and French Guiana viral genotypes.

Mem Inst Oswaldo Cruz. 2023

[6]
First Evidence from Sri Lanka for Subphenotypic Diversity within -Induced Classical Cutaneous Leishmaniasis.

Biomed Res Int. 2021

[7]
FLI1 gene influences lesion size and skin test may predict therapeutic response in cutaneous leishmaniasis.

Mem Inst Oswaldo Cruz. 2020-3-2

[8]
Human genetics of leishmania infections.

Hum Genet. 2020-2-13

[9]
Single nucleotide polymorphisms of the genes IL-2, IL-2RB, and JAK3 in patients with cutaneous leishmaniasis caused by Leishmania (V.) guyanensis in Manaus, Amazonas, Brazil.

PLoS One. 2019-8-8

[10]
-Host Interactions-An Epigenetic Paradigm.

Front Immunol. 2019-3-22

本文引用的文献

[1]
Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.

Nat Genet. 2013-1-6

[2]
Candidate gene case-control and functional study shows macrophage inhibitory factor (MIF) polymorphism is associated with cutaneous leishmaniasis.

Cytokine. 2012-10-13

[3]
Protective and pathologic immune responses in human tegumentary leishmaniasis.

Front Immunol. 2012-10-4

[4]
Association between an emerging disseminated form of leishmaniasis and Leishmania (Viannia) braziliensis strain polymorphisms.

J Clin Microbiol. 2012-10-3

[5]
The immunobiology of Leishmania braziliensis infection.

Front Immunol. 2012-6-8

[6]
Disease severity in patients infected with Leishmania mexicana relates to IL-1β.

PLoS Negl Trop Dis. 2012-5-22

[7]
Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil.

Infect Genet Evol. 2012-3-28

[8]
FLI1 polymorphism affects susceptibility to cutaneous leishmaniasis in Brazil.

Genes Immun. 2011-6-2

[9]
MCP1 haplotypes associated with protection from pulmonary tuberculosis.

BMC Genet. 2011-4-19

[10]
Allelic polymorphism of human FcγRIIA-H/R131 receptor in American tegumentary leishmaniasis.

Int J Immunogenet. 2011-2-16

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