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dc.contributor.authorPey Rodríguez, Ángel Luis
dc.identifier.citationPey, A. L. (2020). Towards Accurate Genotype–Phenotype Correlations in the CYP2D6 Gene. [doi:10.3390/jpm10040158]es_ES
dc.description.abstractEstablishing accurate and large-scale genotype–phenotype correlations and predictions of individual response to pharmacological treatments are two of the holy grails of Personalized Medicine. These tasks are challenging and require an integrated knowledge of the complex processes that regulate gene expression and, ultimately, protein functionality in vivo, the e ects of mutations/polymorphisms and the di erent sources of interindividual phenotypic variability. A remarkable example of our advances in these challenging tasks is the highly polymorphic CYP2D6 gene, which encodes a cytochrome P450 enzyme involved in the metabolization of many of the most marketed drugs (including SARS-Cov-2 therapies such as hydroxychloroquine). Since the introduction of simple activity scores (AS) over 10 years ago, its ability to establish genotype–phenotype correlations on the drug metabolizing capacity of this enzyme in human population has provided lessons that will help to improve this type of score for this, and likely many other human genes and proteins. Multidisciplinary research emerges as the best approach to incorporate additional concepts to refine and improve such functional/activity scores for the CYP2D6 gene, as well as for many other human genes associated with simple and complex genetic diseases.es_ES
dc.description.sponsorshipERDF/Spanish Ministry of Science, Innovation and Universities-State Research Agency RTI2018-096246-B-I00es_ES
dc.description.sponsorshipJunta de Andalucía P18-RT-2413es_ES
dc.rightsAtribución 3.0 España*
dc.subjectDrug metabolismes_ES
dc.subjectGenotype-phenotype correlationses_ES
dc.subjectCytochrome P450 es_ES
dc.titleTowards Accurate Genotype–Phenotype Correlations in the CYP2D6 Genees_ES

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Atribución 3.0 España
Except where otherwise noted, this item's license is described as Atribución 3.0 España