Genotyping of <i>UGT1A1*</i>80 as an Alternative to <i>UGT1A1*</i>28 Genotyping in Spain
Background: The variant rs34983651 (<i>UGT1A1</i>*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 <i>UGT1A1</i>*80 instead of &l...
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| Main Authors: | , , , , |
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| Format: | Book |
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MDPI AG,
2022-09-01T00:00:00Z.
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| Summary: | Background: The variant rs34983651 (<i>UGT1A1</i>*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 <i>UGT1A1</i>*80 instead of <i>UGT1A1</i>*28 in different populations. Methods: We studied SNPs in linkage disequilibrium with <i>UGT1A1</i>*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 <i>UGT1A1</i>*28 genotyping. Samples from cancer patients (n = 701) already tested using PCR and electrophoresis prior to treatment with irinotecan for rs34983651 (<i>UGT1A1</i>*28) in a Spanish hospital were genotyped for rs887829 (<i>UGT1A1</i>*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 <i>UGT1A1</i>*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 <i>UGT1A1</i>*28. |
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| Item Description: | 10.3390/pharmaceutics14102082 1999-4923 |