Triosephosphate isomerase gene promoter variation

Detalhes bibliográficos
Autor(a) principal: Guerra, Mónica
Data de Publicação: 2015
Outros Autores: Machado, Patrícia, Manco, Licínio, Fernandes, Natércia, Miranda, Juliana, Arez, Ana Paula
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://doi.org/10.1016/j.meegid.2015.03.020
Resumo: PMID: 25801609 WOS:000355027300034
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spelling Triosephosphate isomerase gene promoter variation-5G/A and -8G/A polymorphisms in clinical malaria groups in two African populationsHuman malariaSelection signaturesTPI1 gene promoter variantsTriosephosphate isomerase-deficiencyGeneticsInfectious DiseasesParasitologySDG 3 - Good Health and Well-beingPMID: 25801609 WOS:000355027300034TPI1 promoter polymorphisms occur in high prevalence in individuals from African origin. Malaria-patients from Angola and Mozambique were screened for the TPI1 gene promoter variants rs1800200A > G, (-5G > A), rs1800201G > A, (-8G > A), rs1800202T > G, (-24T > G), and for the intron 5 polymorphism rs2071069G > A, (2262G > A). -5G > A and -8G > A variants occur in 47% and 53% in Angola and Mozambique, respectively while -24T > G was monomorphic for the wild-type T allele. Six haplotypes were identified and -8A occurred in 45% of the individuals, especially associated with the GAG haplotype and more frequent in non-severe malaria groups, although not significantly. The arising and dispersion of -5G > A and -8G > A polymorphisms is controversial. Their age was estimated by analyses of two microsatellite loci, CD4 and ATN1, adjacent to TPI1 gene. The -5G > A is older than -8G > A, with an average estimate of approximately 35,000. years. The -8A variant arose in two different backgrounds, suggesting independent mutational events. The first, on the -5G background, may have occurred in East Africa around 20,800. years ago; the second, on the -5A background, may have occurred in West Africa some 7500. years ago. These estimates are within the period of spread of agriculture and the malaria mosquito vector in Africa, which could has been a possible reason for the selection of -8A polymorphism in malaria endemic countries.Instituto de Higiene e Medicina Tropical (IHMT)Global Health and Tropical Medicine (GHTM)Vector borne diseases and pathogens (VBD)RUNGuerra, MónicaMachado, PatríciaManco, LicínioFernandes, NatérciaMiranda, JulianaArez, Ana Paula2018-05-21T22:02:44Z2015-06-012015-06-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article9application/pdfhttps://doi.org/10.1016/j.meegid.2015.03.020eng1567-1348PURE: 1716318http://www.scopus.com/inward/record.url?scp=84926191438&partnerID=8YFLogxKhttps://doi.org/10.1016/j.meegid.2015.03.020info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T04:20:56Zoai:run.unl.pt:10362/37557Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:30:54.292556Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Triosephosphate isomerase gene promoter variation
-5G/A and -8G/A polymorphisms in clinical malaria groups in two African populations
title Triosephosphate isomerase gene promoter variation
spellingShingle Triosephosphate isomerase gene promoter variation
Guerra, Mónica
Human malaria
Selection signatures
TPI1 gene promoter variants
Triosephosphate isomerase-deficiency
Genetics
Infectious Diseases
Parasitology
SDG 3 - Good Health and Well-being
title_short Triosephosphate isomerase gene promoter variation
title_full Triosephosphate isomerase gene promoter variation
title_fullStr Triosephosphate isomerase gene promoter variation
title_full_unstemmed Triosephosphate isomerase gene promoter variation
title_sort Triosephosphate isomerase gene promoter variation
author Guerra, Mónica
author_facet Guerra, Mónica
Machado, Patrícia
Manco, Licínio
Fernandes, Natércia
Miranda, Juliana
Arez, Ana Paula
author_role author
author2 Machado, Patrícia
Manco, Licínio
Fernandes, Natércia
Miranda, Juliana
Arez, Ana Paula
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Instituto de Higiene e Medicina Tropical (IHMT)
Global Health and Tropical Medicine (GHTM)
Vector borne diseases and pathogens (VBD)
RUN
dc.contributor.author.fl_str_mv Guerra, Mónica
Machado, Patrícia
Manco, Licínio
Fernandes, Natércia
Miranda, Juliana
Arez, Ana Paula
dc.subject.por.fl_str_mv Human malaria
Selection signatures
TPI1 gene promoter variants
Triosephosphate isomerase-deficiency
Genetics
Infectious Diseases
Parasitology
SDG 3 - Good Health and Well-being
topic Human malaria
Selection signatures
TPI1 gene promoter variants
Triosephosphate isomerase-deficiency
Genetics
Infectious Diseases
Parasitology
SDG 3 - Good Health and Well-being
description PMID: 25801609 WOS:000355027300034
publishDate 2015
dc.date.none.fl_str_mv 2015-06-01
2015-06-01T00:00:00Z
2018-05-21T22:02:44Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.1016/j.meegid.2015.03.020
url https://doi.org/10.1016/j.meegid.2015.03.020
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 1567-1348
PURE: 1716318
http://www.scopus.com/inward/record.url?scp=84926191438&partnerID=8YFLogxK
https://doi.org/10.1016/j.meegid.2015.03.020
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dc.format.none.fl_str_mv 9
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