Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

Abad-Santos, Francisco; Aliño, Salvador F.; Borobia, Alberto M.; García-Martín, Elena; Gassó, Patricia; Maroñas, Olalla; Agúndez, José A.G.

doi:10.1016/j.phrs.2024.107061

Pharmacological Research

2024

DOI: 10.1016/j.phrs.2024.107061

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Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

Francisco Abad-Santos,

Salvador F. Aliño,

Alberto M. Borobia

et al.

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2024

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Cited by 3 publications

References 112 publications

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An account on the history of pharmacology in Spain

Aldea-Perona,

Beledo,

Iniesta

et al. 2024

Pharmacological Research

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An account on the history of pharmacology in Spain

Aldea-Perona,

Beledo,

Iniesta

et al. 2024

Pharmacological Research

View full text Add to dashboard Cite

Update on the PriME-PGx initiative: evolution of pharmacogenetics in daily clinical practice

González-Iglesias,

Abad-Santos

2024

Pharmacogenomics

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An Inexpensive and Quick Method for Genotyping of HLA Variants Included in the Spanish Pharmacogenomic Portfolio of National Health System

Taladriz-Sender,

Hernández-Osio,

Zapata-Cobo

et al. 2024

IJMS

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The possibility of using the same genotyping technology (TaqMan) for all the genetic tests included in the new Spanish pharmacogenomics portfolio should enable the application of a multigenotyping platform to obtain a whole pharmacogenomics profile. However, HLA-typing is usually performed with other technologies and needs to be adapted to TaqMan assays. Our aim was to establish a set of TaqMan assays for correct typing of HLA-A*31:01, HLA-B*15:02, HLA-B*57:01, and HLA-B*58:01. Therefore, we searched for and selected SNVs described in different populations as surrogate markers for these HLA alleles, designed TaqMan assays, and tested in a set of samples with known HLA-A and HLA-B. HLA-A*31:01 was correctly typed with a combination of rs1061235 and rs17179220 (PPV 100%, 95% CI 84.6–100-%; NPV 100%, 95% CI 96.5–100.0%), HLA-B*15:02 with rs10484555 (PPV 100%, 95% CI 69.2–100.0%; NPV 100%, 95% CI 96.8–100.0%) and rs144012689 (PPV 100%, 95% CI 69.2–100.0%; NPV 100%, 95% CI 96.8–100.0%), and HLA-B*57:01 with rs2395029 (PPV 99.5%, 95% CI 72.9–99.3%; NPV 99.5%, 95% CI 98.3–100.0%). HLA-B*58:01 was typed using two allele-specific TaqMan probes mixed with a ß-Globin reference and treated as a genotyping assay (PPV 100.0%, 95% CI 81.5–100.0%; NPV 100%, 95% CI 96.8–100.0%). In conclusion, we demonstrated a clinically useful way to type HLA-A and HLA-B alleles included in the Spanish pharmacogenomics portfolio using TaqMan assays.

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Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

Cited by 3 publications

References 112 publications

An account on the history of pharmacology in Spain

An account on the history of pharmacology in Spain

Update on the PriME-PGx initiative: evolution of pharmacogenetics in daily clinical practice

An Inexpensive and Quick Method for Genotyping of HLA Variants Included in the Spanish Pharmacogenomic Portfolio of National Health System

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