Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/17211
Título
A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.
Autor(es)
Fecha de publicación
2023-04-19
Cita
Pharmaceutics. 2023;15(4):1286.
Idioma
Inglés
Tipo de documento
journal article
Resumen
The implementation of pharmacogenetics (PGx) is a main milestones of precision medicine nowadays in order to achieve safer and more effective therapies. Nevertheless, the implementation of PGx diagnostics is extremely slow and unequal worldwide, in part due to a lack of ethnic PGx information. We analysed genetic data from 3006 Spanish individuals obtained by different high-throughput (HT) techniques. Allele frequencies were determined in our population for the main 21 actionable PGx genes associated with therapeutical changes. We found that 98% of the Spanish population harbours at least one allele associated with a therapeutical change and, thus, there would be a need for a therapeutical change in a mean of 3.31 of the 64 associated drugs. We also identified 326 putative deleterious variants that were not previously related with PGx in 18 out of the 21 main PGx genes evaluated and a total of 7122 putative deleterious variants for the 1045 PGx genes described. Additionally, we performed a comparison of the main HT diagnostic techniques, revealing that after whole genome sequencing, genotyping with the PGx HT array is the most suitable solution for PGx diagnostics. Finally, all this information was integrated in the Collaborative Spanish Variant Server to be available to and updated by the scientific community.
Palabras clave
PHARMACOGENETICS | PHARMACOGENOMICS | SPNANISH POPULATION | PHARMACOGENETICS CHARACTERISATION | GENOTYPING | SEQUENCING | POPULATION | DATABASE
DOI
Aparece en las colecciones
Ficheros en el ítem
![Acceso Abierto Acceso Abierto](/themes/Mirage2/images/openAccess.png)
- Nombre:
- comprehensiveanalysisof21_2023.pdf
- Tamaño:
- 2.400Mb
- Formato:
- Descripción:
- Artículo principal
![Acceso Abierto Acceso Abierto](/themes/Mirage2/images/openAccess.png)
- Nombre:
- comprehensiveanalysisof21_2023.webp
- Tamaño:
- 80.29Kb
- Formato:
- Desconocido
- Descripción:
- Imagen