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Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal

2015-10-03Journal article Restricted access
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dc.contributor.authorGaio, Vânia
dc.contributor.authorPicanço, Isabel
dc.contributor.authorNunes, Baltazar
dc.contributor.authorFernandes, Aida
dc.contributor.authorMendonça, Francisco
dc.contributor.authorHorta Correia, Filomena
dc.contributor.authorBeleza, Álvaro
dc.contributor.authorGil, Ana Paula
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorVicente, A.M.
dc.contributor.authorDias, Carlos Matias
dc.contributor.authorBarreto da Silva, Marta
dc.date.accessioned2016-02-23T13:51:59Z
dc.date.available2016-02-23T13:51:59Z
dc.date.issued2015-10-03
dc.description.abstractBackground: The genetic inter-individual variability of drug response can lead to therapeutic failure or adverse drug reactions (ADRs). The aims of this study were to assess the pharmacogenetic profile of a South Portuguese population according to established dosing guidelines for commonly prescribed drugs and to compare it with that of previously genotyped populations. Methods: A cross-sectional study was developed in the context of the Portuguese Component of the European Health Examination Survey (EHES). A total of 47 pharmacogenetically relevant variants in 23 different genes were genotyped in 208 participants. Allelic and genotypic frequencies were calculated, and the pharmacogenetic profile of the participants was defined. A comparative analysis was conducted through electronic database search. Pairwise Fst calculations were performed to assess the genetic distance between populations. Results: We found a significant small differentiation between the Portuguese regional populations regarding CYP2C9 rs1057910, CYP2D6 rs3892097, MTHFR rs1801133 and F5 rs6025. When consid-ering 4 HapMap populations, ADH1B rs2066702, ADH1B rs1229984, NAT2 rs1799931 and VKORC1 rs9923231 displayed a significant population differentiation. We found that 18.9% of the participants are intermediate or poor metabolizers for at least 3 drugs simultaneously and that 84.6% of the participants have at least one therapeutic failure or ADR risk allele for the considered drugs. Conclusions: There is a high prevalence of risk alleles associated with an altered drug metabolism regarding drugs largely used by the South Portuguese population. This knowledge contributes to the prediction of their clinical efficacy and/or toxicity, optimizing therapeutic response while improving cost-effectiveness.pt_PT
dc.description.sponsorshipThe pilot study of the Portuguese Component of the European Health Examination Survey (EHES) project has received funding from the European Commission/DG Sanco (agreement No.: 20092301-EHES JA-EAHC). This study has also received funding from the Portuguese Foundation for Science and Technology (FCT) (project reference: PTDC/SAU-ESA/101743/2008).pt_PT
dc.identifier.citationPublic Health Genomics. 2015;18(3):139-50. doi: 10.1159/000373920. Epub 2015 Mar 10pt_PT
dc.identifier.doi10.1159/000373920pt_PT
dc.identifier.issn1662-4246
dc.identifier.urihttp://hdl.handle.net/10400.18/3484
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherS. Karger AGpt_PT
dc.relationGene-environment interactions in health and disease, a Portuguese survey.
dc.relation.publisherversionhttp://www.karger.com/Article/Abstract/373920pt_PT
dc.subjectPharmacogeneticspt_PT
dc.subjectGenetic Distancept_PT
dc.subjectGenetic Variantspt_PT
dc.subjectPopulation-based Studypt_PT
dc.subjectPerfil Farmacogenéticopt_PT
dc.subjectEstudo Piloto do Inquérito Europeu de Saúde com Exame Físicopt_PT
dc.subjectPopulação Portuguesapt_PT
dc.subjectCuidados de Saúdept_PT
dc.subjectINSEFpt_PT
dc.subjectInquérito Europeu de Saúde com Exame Físicopt_PT
dc.titlePharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugalpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleGene-environment interactions in health and disease, a Portuguese survey.
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-ESA%2F101743%2F2008/PT
oaire.citation.conferencePlaceBasel, Switzerlandpt_PT
oaire.citation.endPage150pt_PT
oaire.citation.startPage139pt_PT
oaire.citation.titlePublic Health Genomicspt_PT
oaire.citation.volume18(3)pt_PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationa02e8227-25a3-49f0-9030-d8d9b1856af3
relation.isProjectOfPublication.latestForDiscoverya02e8227-25a3-49f0-9030-d8d9b1856af3

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