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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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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 |
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