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Triosephosphate isomerase gene promoter variation

dc.contributor.authorGuerra, Mónica
dc.contributor.authorMachado, Patrícia
dc.contributor.authorManco, Licínio
dc.contributor.authorFernandes, Natércia
dc.contributor.authorMiranda, Juliana
dc.contributor.authorArez, Ana Paula
dc.contributor.institutionInstituto de Higiene e Medicina Tropical (IHMT)
dc.contributor.institutionGlobal Health and Tropical Medicine (GHTM)
dc.contributor.institutionVector borne diseases and pathogens (VBD)
dc.contributor.pblElsevier
dc.date.accessioned2018-05-21T22:02:44Z
dc.date.available2018-05-21T22:02:44Z
dc.date.issued2015-06-01
dc.descriptionPMID: 25801609 WOS:000355027300034
dc.description.abstractTPI1 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.en
dc.description.versionauthorsversion
dc.description.versionpublished
dc.format.extent9
dc.format.extent534926
dc.identifier.doi10.1016/j.meegid.2015.03.020
dc.identifier.issn1567-1348
dc.identifier.otherPURE: 1716318
dc.identifier.otherPURE UUID: 64eae3b5-7a31-48d8-ad04-0bb25199b7a4
dc.identifier.otherScopus: 84926191438
dc.identifier.otherWOS: 000355027300034
dc.identifier.otherPubMed: 25801609
dc.identifier.otherORCID: /0000-0002-0497-6532/work/43166143
dc.identifier.urihttp://www.scopus.com/inward/record.url?scp=84926191438&partnerID=8YFLogxK
dc.identifier.urlhttps://www.scopus.com/pages/publications/84926191438
dc.language.isoeng
dc.peerreviewedyes
dc.subjectHuman malaria
dc.subjectSelection signatures
dc.subjectTPI1 gene promoter variants
dc.subjectTriosephosphate isomerase-deficiency
dc.subjectGenetics
dc.subjectInfectious Diseases
dc.subjectParasitology
dc.subjectSDG 3 - Good Health and Well-being
dc.titleTriosephosphate isomerase gene promoter variationen
dc.title.subtitle-5G/A and -8G/A polymorphisms in clinical malaria groups in two African populationsen
dc.typejournal article
degois.publication.firstPage271
degois.publication.lastPage279
degois.publication.titleInfection, Genetics and Evolution
degois.publication.volume32
dspace.entity.typePublication
rcaap.rightsopenAccess

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