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Publicação
Alle Frequency Distribution Of Clinicaly Relevant Pharmacogenetic Variants In Genes With CPIC Guidelines Across European Populations: A Scoping Review
Orientador(es)
Resumo(s)
Introduction: Pharmacogenetics (PGx) is the study of how genetic variants affect drug response. PGx variants can affect either pharmacokinetics – the processes of drug absorption, distribution, metabolism, and elimination – or pharmacodynamics – the biochemical and physiological effects of drugs and their mechanisms of action. Pharmacokinetics gene variants often define haplotypes, which are described using the star (*) allele nomenclature for genes such as those in the Cytochrome P450 (CYP450) family. This results in phenotypes of normal, rapid, ultrarapid, or poor metabolisers, leading to various drug responses (1). In recognition of the importance of understanding the clinical impact of PGx variants, the Clinical Pharmacogenetics Implementation Consortium (CPIC) has developed guidelines that translate PGx test results into clinical recommendations for drug selection and dosing (2). Reports in the literature on ancestry‑related differences in drug response highlight the need for a broader investigation of PGx variants, namely in CYP450 genes, across diverse groups(3).
Descrição
Abstract disponível em: Sociedade Portuguesa de Genética Humana. Livro de Resumos. 29. Annual Meeting; 2025 Nov 20-22; Coimbra, Portugal. p. 65.
Palavras-chave
Farmacogenética Populações Europeias Frequências Alélicas Europe