Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1590/0074-02760180274 http://hdl.handle.net/11449/185194 |
Resumo: | BACKGROUND Leprosy is a chronic infectious disease caused by Mycobacterium leprae, and compromises the skin and peripheral nerves. This disease has been classified as multibacillary (MB) or paucibacillary (PB) depending on the host immune response. Genetic epidemiology studies in leprosy have shown the influence of human genetic components on the disease outcomes. OBJECTIVES We conducted an association study for IL2RA and TGFBI genes with clinical forms of leprosy based on two case-control samples. These genes encode important molecules for the immunosuppressive activity of Treg cells and present differential expressions according to the clinical forms of leprosy. Furthermore, IL2RA is a positional candidate gene because it is located near the 10p13 chromosome region, presenting a linkage peak for PB leprosy. METHODS A total of 885 leprosy cases were included in the study; 406 cases from Rondonopolis County (start population), a hyperendemic region for leprosy in Brazil, and 479 cases from Sao Paulo state (replication population), which has lower epidemiological indexes for the disease. We tested 11 polymorphisms in the IL2RA gene and the missense variant rs1800470 in the TGFB1 gene. FINDINGS The AA genotype of rs2386841 in IL2RA was associated with the PB form in the start population. The AA genotype of rs1800470 in TGFBI was associated with the MB form in the start population, and this association was confirmed for the replication population. MAIN CONCLUSIONS We demonstrated, for the first time, an association data with the PB form for a gene located on chromosome 10. In addition, we reported the association of TGFBI gene with the MB form. Our results place these genes as candidates for validation and replication studies in leprosy polarisation. |
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Repositório Institucional da UNESP |
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Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian populationleprosygenetic epidemiologyTGFB1IL2RATregsBACKGROUND Leprosy is a chronic infectious disease caused by Mycobacterium leprae, and compromises the skin and peripheral nerves. This disease has been classified as multibacillary (MB) or paucibacillary (PB) depending on the host immune response. Genetic epidemiology studies in leprosy have shown the influence of human genetic components on the disease outcomes. OBJECTIVES We conducted an association study for IL2RA and TGFBI genes with clinical forms of leprosy based on two case-control samples. These genes encode important molecules for the immunosuppressive activity of Treg cells and present differential expressions according to the clinical forms of leprosy. Furthermore, IL2RA is a positional candidate gene because it is located near the 10p13 chromosome region, presenting a linkage peak for PB leprosy. METHODS A total of 885 leprosy cases were included in the study; 406 cases from Rondonopolis County (start population), a hyperendemic region for leprosy in Brazil, and 479 cases from Sao Paulo state (replication population), which has lower epidemiological indexes for the disease. We tested 11 polymorphisms in the IL2RA gene and the missense variant rs1800470 in the TGFB1 gene. FINDINGS The AA genotype of rs2386841 in IL2RA was associated with the PB form in the start population. The AA genotype of rs1800470 in TGFBI was associated with the MB form in the start population, and this association was confirmed for the replication population. MAIN CONCLUSIONS We demonstrated, for the first time, an association data with the PB form for a gene located on chromosome 10. In addition, we reported the association of TGFBI gene with the MB form. Our results place these genes as candidates for validation and replication studies in leprosy polarisation.Inst Lauro de Souza Lima, Bauru, SP, BrazilUniv Estadual Paulista, Fac Med Botucatu, Dept Doencas Tropicais & Diagnost Imagem, Botucatu, SP, BrazilUniv Estadual Paulista, Fac Med Botucatu, Dept Doencas Tropicais & Diagnost Imagem, Botucatu, SP, BrazilFundaco Oswaldo CruzInst Lauro de Souza LimaUniversidade Estadual Paulista (Unesp)Camargo, Rodrigo Mendes de [UNESP]Silva, Weber Laurentino da [UNESP]Medeiros, Priscila [UNESP]Fernandes Belone, Andrea de FariaPereira Latini, Ana Carla [UNESP]2019-10-04T12:33:27Z2019-10-04T12:33:27Z2018-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article7application/pdfhttp://dx.doi.org/10.1590/0074-02760180274Memorias Do Instituto Oswaldo Cruz. Rio De Janeiro, Rj: Fundaco Oswaldo Cruz, v. 113, n. 12, 7 p., 2018.0074-0276http://hdl.handle.net/11449/18519410.1590/0074-02760180274S0074-02762018001200304WOS:000452627300001S0074-02762018001200304.pdfWeb of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengMemorias Do Instituto Oswaldo Cruzinfo:eu-repo/semantics/openAccess2024-08-15T15:23:02Zoai:repositorio.unesp.br:11449/185194Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-15T15:23:02Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population |
title |
Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population |
spellingShingle |
Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population Camargo, Rodrigo Mendes de [UNESP] leprosy genetic epidemiology TGFB1 IL2RA Tregs |
title_short |
Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population |
title_full |
Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population |
title_fullStr |
Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population |
title_full_unstemmed |
Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population |
title_sort |
Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population |
author |
Camargo, Rodrigo Mendes de [UNESP] |
author_facet |
Camargo, Rodrigo Mendes de [UNESP] Silva, Weber Laurentino da [UNESP] Medeiros, Priscila [UNESP] Fernandes Belone, Andrea de Faria Pereira Latini, Ana Carla [UNESP] |
author_role |
author |
author2 |
Silva, Weber Laurentino da [UNESP] Medeiros, Priscila [UNESP] Fernandes Belone, Andrea de Faria Pereira Latini, Ana Carla [UNESP] |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Inst Lauro de Souza Lima Universidade Estadual Paulista (Unesp) |
dc.contributor.author.fl_str_mv |
Camargo, Rodrigo Mendes de [UNESP] Silva, Weber Laurentino da [UNESP] Medeiros, Priscila [UNESP] Fernandes Belone, Andrea de Faria Pereira Latini, Ana Carla [UNESP] |
dc.subject.por.fl_str_mv |
leprosy genetic epidemiology TGFB1 IL2RA Tregs |
topic |
leprosy genetic epidemiology TGFB1 IL2RA Tregs |
description |
BACKGROUND Leprosy is a chronic infectious disease caused by Mycobacterium leprae, and compromises the skin and peripheral nerves. This disease has been classified as multibacillary (MB) or paucibacillary (PB) depending on the host immune response. Genetic epidemiology studies in leprosy have shown the influence of human genetic components on the disease outcomes. OBJECTIVES We conducted an association study for IL2RA and TGFBI genes with clinical forms of leprosy based on two case-control samples. These genes encode important molecules for the immunosuppressive activity of Treg cells and present differential expressions according to the clinical forms of leprosy. Furthermore, IL2RA is a positional candidate gene because it is located near the 10p13 chromosome region, presenting a linkage peak for PB leprosy. METHODS A total of 885 leprosy cases were included in the study; 406 cases from Rondonopolis County (start population), a hyperendemic region for leprosy in Brazil, and 479 cases from Sao Paulo state (replication population), which has lower epidemiological indexes for the disease. We tested 11 polymorphisms in the IL2RA gene and the missense variant rs1800470 in the TGFB1 gene. FINDINGS The AA genotype of rs2386841 in IL2RA was associated with the PB form in the start population. The AA genotype of rs1800470 in TGFBI was associated with the MB form in the start population, and this association was confirmed for the replication population. MAIN CONCLUSIONS We demonstrated, for the first time, an association data with the PB form for a gene located on chromosome 10. In addition, we reported the association of TGFBI gene with the MB form. Our results place these genes as candidates for validation and replication studies in leprosy polarisation. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-01-01 2019-10-04T12:33:27Z 2019-10-04T12:33:27Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1590/0074-02760180274 Memorias Do Instituto Oswaldo Cruz. Rio De Janeiro, Rj: Fundaco Oswaldo Cruz, v. 113, n. 12, 7 p., 2018. 0074-0276 http://hdl.handle.net/11449/185194 10.1590/0074-02760180274 S0074-02762018001200304 WOS:000452627300001 S0074-02762018001200304.pdf |
url |
http://dx.doi.org/10.1590/0074-02760180274 http://hdl.handle.net/11449/185194 |
identifier_str_mv |
Memorias Do Instituto Oswaldo Cruz. Rio De Janeiro, Rj: Fundaco Oswaldo Cruz, v. 113, n. 12, 7 p., 2018. 0074-0276 10.1590/0074-02760180274 S0074-02762018001200304 WOS:000452627300001 S0074-02762018001200304.pdf |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Memorias Do Instituto Oswaldo Cruz |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
7 application/pdf |
dc.publisher.none.fl_str_mv |
Fundaco Oswaldo Cruz |
publisher.none.fl_str_mv |
Fundaco Oswaldo Cruz |
dc.source.none.fl_str_mv |
Web of Science reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
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1808128172454051840 |