Cargando…

Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain

Background: The variant rs34983651 (UGT1A1*28) and its genotyping are used to prevent irinotecan-induced toxicity. Several variants are in close linkage disequilibrium. Our objective was to evaluate the potential correlation of genotyping UGT1A1*80 instead of UGT1A1*28 in different populations. Meth...

Descripción completa

Detalles Bibliográficos
Autores principales: Bravo-Gómez, Adrián, Salvador-Martín, Sara, Zapata-Cobo, Paula, Sanjurjo-Sáez, María, López-Fernández, Luis Andrés
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9610287/
https://www.ncbi.nlm.nih.gov/pubmed/36297516
http://dx.doi.org/10.3390/pharmaceutics14102082
_version_ 1784819232178962432
author Bravo-Gómez, Adrián
Salvador-Martín, Sara
Zapata-Cobo, Paula
Sanjurjo-Sáez, María
López-Fernández, Luis Andrés
author_facet Bravo-Gómez, Adrián
Salvador-Martín, Sara
Zapata-Cobo, Paula
Sanjurjo-Sáez, María
López-Fernández, Luis Andrés
author_sort Bravo-Gómez, Adrián
collection PubMed
description Background: The variant rs34983651 (UGT1A1*28) and its genotyping are used to prevent irinotecan-induced toxicity. Several variants are in close linkage disequilibrium. Our objective was to evaluate the potential correlation of genotyping UGT1A1*80 instead of UGT1A1*28 in different populations. Methods: We studied SNPs in linkage disequilibrium with UGT1A1*28 in several populations and selected rs887829 to develop an inexpensive and rapid genotyping method and compare it with the one we currently use for UGT1A1*28 genotyping. Samples from cancer patients (n = 701) already tested using PCR and electrophoresis prior to treatment with irinotecan for rs34983651 (UGT1A1*28) in a Spanish hospital were genotyped for rs887829 (UGT1A1*80) using real-time PCR with a TaqMan probe. Results: We observed a complete match for both genotypes, except in one sample. This method was 100% efficient in correctly genotyping *28/*28 patients, 99.68% efficient for *1/*28, and 100% efficient for *1/*1. Linkage disequilibrium between populations showed the Iberian population to be the most suitable for the clinical use of UGT1A1*80. This method is less expensive and the time to decision is shorter. Conclusion: Genotyping of rs887829 using the proposed method may be used to substitute genotyping of rs34983651 as a pharmacogenetics test in cancer patients prior to starting irinotecan-based treatments, mainly in the Iberian population. In addition, it is less expensive than other conventional methods and easy to implement, with a shorter time to decision than UGT1A1*28.
format Online
Article
Text
id pubmed-9610287
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-96102872022-10-28 Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain Bravo-Gómez, Adrián Salvador-Martín, Sara Zapata-Cobo, Paula Sanjurjo-Sáez, María López-Fernández, Luis Andrés Pharmaceutics Article Background: The variant rs34983651 (UGT1A1*28) and its genotyping are used to prevent irinotecan-induced toxicity. Several variants are in close linkage disequilibrium. Our objective was to evaluate the potential correlation of genotyping UGT1A1*80 instead of UGT1A1*28 in different populations. Methods: We studied SNPs in linkage disequilibrium with UGT1A1*28 in several populations and selected rs887829 to develop an inexpensive and rapid genotyping method and compare it with the one we currently use for UGT1A1*28 genotyping. Samples from cancer patients (n = 701) already tested using PCR and electrophoresis prior to treatment with irinotecan for rs34983651 (UGT1A1*28) in a Spanish hospital were genotyped for rs887829 (UGT1A1*80) using real-time PCR with a TaqMan probe. Results: We observed a complete match for both genotypes, except in one sample. This method was 100% efficient in correctly genotyping *28/*28 patients, 99.68% efficient for *1/*28, and 100% efficient for *1/*1. Linkage disequilibrium between populations showed the Iberian population to be the most suitable for the clinical use of UGT1A1*80. This method is less expensive and the time to decision is shorter. Conclusion: Genotyping of rs887829 using the proposed method may be used to substitute genotyping of rs34983651 as a pharmacogenetics test in cancer patients prior to starting irinotecan-based treatments, mainly in the Iberian population. In addition, it is less expensive than other conventional methods and easy to implement, with a shorter time to decision than UGT1A1*28. MDPI 2022-09-29 /pmc/articles/PMC9610287/ /pubmed/36297516 http://dx.doi.org/10.3390/pharmaceutics14102082 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Bravo-Gómez, Adrián
Salvador-Martín, Sara
Zapata-Cobo, Paula
Sanjurjo-Sáez, María
López-Fernández, Luis Andrés
Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain
title Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain
title_full Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain
title_fullStr Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain
title_full_unstemmed Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain
title_short Genotyping of UGT1A1*80 as an Alternative to UGT1A1*28 Genotyping in Spain
title_sort genotyping of ugt1a1*80 as an alternative to ugt1a1*28 genotyping in spain
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9610287/
https://www.ncbi.nlm.nih.gov/pubmed/36297516
http://dx.doi.org/10.3390/pharmaceutics14102082
work_keys_str_mv AT bravogomezadrian genotypingofugt1a180asanalternativetougt1a128genotypinginspain
AT salvadormartinsara genotypingofugt1a180asanalternativetougt1a128genotypinginspain
AT zapatacobopaula genotypingofugt1a180asanalternativetougt1a128genotypinginspain
AT sanjurjosaezmaria genotypingofugt1a180asanalternativetougt1a128genotypinginspain
AT lopezfernandezluisandres genotypingofugt1a180asanalternativetougt1a128genotypinginspain