Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3484
Título: Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal
Autor: Gaio, Vânia
Picanço, Isabel
Nunes, Baltazar
Fernandes, Aida
Mendonça, Francisco
Horta Correia, Filomena
Beleza, Álvaro
Gil, Ana Paula
Bourbon, Mafalda
Vicente, A.M.
Dias, Carlos Matias
Barreto da Silva, Marta
Palavras-chave: Pharmacogenetics
Genetic Distance
Genetic Variants
Population-based Study
Perfil Farmacogenético
Estudo Piloto do Inquérito Europeu de Saúde com Exame Físico
População Portuguesa
Cuidados de Saúde
Inquérito Europeu de Saúde com Exame Físico
Data: 3-Out-2015
Editora: S. Karger AG
Citação: Public Health Genomics. 2015;18(3):139-50. doi: 10.1159/000373920. Epub 2015 Mar 10
Resumo: Background: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/3484
DOI: 10.1159/000373920
ISSN: 1662-4246
Versão do Editor: http://www.karger.com/Article/Abstract/373920
Aparece nas colecções:DEP - Artigos em revistas internacionais
DPSPDNT - Artigos em revistas internacionais

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