@misc{10481/66572,
year = {2020},
month = {10},
url = {http://hdl.handle.net/10481/66572},
abstract = {Establishing 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.},
organization = {ERDF/Spanish Ministry of Science, Innovation and Universities-State Research Agency 	
RTI2018-096246-B-I00},
organization = {Junta de Andalucía

P18-RT-2413},
publisher = {Mdpi},
keywords = {Drug metabolism},
keywords = {Polymorphism},
keywords = {Genotype-phenotype correlations},
keywords = {Cytochrome P450},
title = {Towards Accurate Genotype–Phenotype Correlations in the CYP2D6 Gene},
doi = {10.3390/jpm10040158},
author = {Pey Rodríguez, Ángel Luis},
}