2026-06-30T04:06:45Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/172112024-11-29T20:36:37Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Nunez-Torres, Rocio
author
Pita, Guillermo
author
Peña-Chilet, María
author
López-López, Daniel
author
Zamora, Jorge
author
Roldán, Gema
author
Herráez, Belén
author
Álvarez, Nuria
author
Alonso, María Rosario
author
Dopazo, Joaquín
funder
Instituto de Salud Carlos III
funder
Unión Europea
2024-01-17T13:06:43Z
2024-01-17T13:06:43Z
2023-04-19
Pharmaceutics. 2023;15(4):1286.
10.3390/pharmaceutics15041286
1999-4923
Pharmaceutics
37111771
http://hdl.handle.net/20.500.12105/17211
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.
eng
PHARMACOGENETICS
PHARMACOGENOMICS
SPNANISH POPULATION
PHARMACOGENETICS CHARACTERISATION
GENOTYPING
SEQUENCING
POPULATION
DATABASE
A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.
journal article
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