Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.4238/2013.December.16.1 http://hdl.handle.net/11449/112842 |
Resumo: | Sickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphism -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growth factor beta 1), reported to increase TNF-alpha and TGF-beta 1 production, respectively. Changes in the cytokine balance are important risk Factors for clinical events; consequently, we examined the frequencies of these polymorphisms in 240 Brazilian sickle cell anemia patients from southeast Brazil. PCR-RFLP was used to detect these polymorphism. The -509C/T (TGFB1) polymorphism was more frequent than -308G/A (TNFA), with allelic frequency of 0.3 for the mutant allele T (TGFB) agaist 0.1 for the mutant allele A (TNFA). These allelic frequencies are similar to those known from populations with ethnicity similar to the Brazilian population. Inheritance of these polymorphisms does not seem to be associated with that of the Hb S mutation; however, this information could be useful in analyses of specific clinical characteristics of sickle cell anemia. |
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Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from BrazilAllelic frequencyGenetic polymorphismPCR-RFLPSickle cell diseaseSNPsHemoglobin SSickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphism -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growth factor beta 1), reported to increase TNF-alpha and TGF-beta 1 production, respectively. Changes in the cytokine balance are important risk Factors for clinical events; consequently, we examined the frequencies of these polymorphisms in 240 Brazilian sickle cell anemia patients from southeast Brazil. PCR-RFLP was used to detect these polymorphism. The -509C/T (TGFB1) polymorphism was more frequent than -308G/A (TNFA), with allelic frequency of 0.3 for the mutant allele T (TGFB) agaist 0.1 for the mutant allele A (TNFA). These allelic frequencies are similar to those known from populations with ethnicity similar to the Brazilian population. Inheritance of these polymorphisms does not seem to be associated with that of the Hb S mutation; however, this information could be useful in analyses of specific clinical characteristics of sickle cell anemia.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Ministerio da SaudeFundacao Pro-Hemorio RJ (FUNDARJ)Univ Estadual Paulista, Dept Biol, Lab Hemoglobinas & Genet Doencas Hematol, Sao Jose Do Rio Preto, SP, BrazilInst Estadual Hematol Arthur de Siqueira Cavalcan, Rio De Janeiro, RJ, BrazilHosp Beneficencia Portuguesa, Sao Jose Do Rio Preto, SP, BrazilUniv Estadual Paulista, Dept Biol, Lab Hemoglobinas & Genet Doencas Hematol, Sao Jose Do Rio Preto, SP, BrazilMinisterio da SaudeMS3072/2007Funpec-editoraUniversidade Estadual Paulista (Unesp)Inst Estadual Hematol Arthur de Siqueira CavalcanHosp Beneficencia PortuguesaTorres, L. S. [UNESP]Belini Junior, E. [UNESP]Silva, D. G. [UNESP]Lobo, C. L.Ruiz, M. A.Bonini-Domingos, C. R. [UNESP]2014-12-03T13:11:06Z2014-12-03T13:11:06Z2013-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article6762-6766application/pdfhttp://dx.doi.org/10.4238/2013.December.16.1Genetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 12, n. 4, p. 6762-6766, 2013.1676-5680http://hdl.handle.net/11449/11284210.4238/2013.December.16.1WOS:000331608000265WOS000331608000265.pdf32794280661767190000-0002-4603-9467Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics and Molecular Research0,439info:eu-repo/semantics/openAccess2023-10-07T06:01:43Zoai:repositorio.unesp.br:11449/112842Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462023-10-07T06:01:43Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil |
title |
Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil |
spellingShingle |
Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil Torres, L. S. [UNESP] Allelic frequency Genetic polymorphism PCR-RFLP Sickle cell disease SNPs Hemoglobin S |
title_short |
Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil |
title_full |
Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil |
title_fullStr |
Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil |
title_full_unstemmed |
Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil |
title_sort |
Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil |
author |
Torres, L. S. [UNESP] |
author_facet |
Torres, L. S. [UNESP] Belini Junior, E. [UNESP] Silva, D. G. [UNESP] Lobo, C. L. Ruiz, M. A. Bonini-Domingos, C. R. [UNESP] |
author_role |
author |
author2 |
Belini Junior, E. [UNESP] Silva, D. G. [UNESP] Lobo, C. L. Ruiz, M. A. Bonini-Domingos, C. R. [UNESP] |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) Inst Estadual Hematol Arthur de Siqueira Cavalcan Hosp Beneficencia Portuguesa |
dc.contributor.author.fl_str_mv |
Torres, L. S. [UNESP] Belini Junior, E. [UNESP] Silva, D. G. [UNESP] Lobo, C. L. Ruiz, M. A. Bonini-Domingos, C. R. [UNESP] |
dc.subject.por.fl_str_mv |
Allelic frequency Genetic polymorphism PCR-RFLP Sickle cell disease SNPs Hemoglobin S |
topic |
Allelic frequency Genetic polymorphism PCR-RFLP Sickle cell disease SNPs Hemoglobin S |
description |
Sickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphism -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growth factor beta 1), reported to increase TNF-alpha and TGF-beta 1 production, respectively. Changes in the cytokine balance are important risk Factors for clinical events; consequently, we examined the frequencies of these polymorphisms in 240 Brazilian sickle cell anemia patients from southeast Brazil. PCR-RFLP was used to detect these polymorphism. The -509C/T (TGFB1) polymorphism was more frequent than -308G/A (TNFA), with allelic frequency of 0.3 for the mutant allele T (TGFB) agaist 0.1 for the mutant allele A (TNFA). These allelic frequencies are similar to those known from populations with ethnicity similar to the Brazilian population. Inheritance of these polymorphisms does not seem to be associated with that of the Hb S mutation; however, this information could be useful in analyses of specific clinical characteristics of sickle cell anemia. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-01-01 2014-12-03T13:11:06Z 2014-12-03T13:11:06Z |
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/10.4238/2013.December.16.1 Genetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 12, n. 4, p. 6762-6766, 2013. 1676-5680 http://hdl.handle.net/11449/112842 10.4238/2013.December.16.1 WOS:000331608000265 WOS000331608000265.pdf 3279428066176719 0000-0002-4603-9467 |
url |
http://dx.doi.org/10.4238/2013.December.16.1 http://hdl.handle.net/11449/112842 |
identifier_str_mv |
Genetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 12, n. 4, p. 6762-6766, 2013. 1676-5680 10.4238/2013.December.16.1 WOS:000331608000265 WOS000331608000265.pdf 3279428066176719 0000-0002-4603-9467 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Genetics and Molecular Research 0,439 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
6762-6766 application/pdf |
dc.publisher.none.fl_str_mv |
Funpec-editora |
publisher.none.fl_str_mv |
Funpec-editora |
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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1799964461752123392 |