| Naslov: | Genetic profiling of NUDT15 in the Slovenian population |
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| Avtorji: | ID Šmid, Alenka (Avtor)
ID Urbančič, Dunja (Avtor)
ID Vrevc Žlajpah, Jaka (Avtor)
ID Stollarova, Natalia (Avtor)
ID Prelog, Tomaž (Avtor)
ID Kavčič, Marko (Avtor)
ID Jazbec, Janez (Avtor)
ID Mlinarič-Raščan, Irena (Avtor)
ID Karas Kuželički, Nataša (Avtor) |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (2,05 MB)
MD5: 11549AB1D1AD562223943245F9BDFD25
 URL - Izvorni URL, za dostop obiščite https://www.tandfonline.com/doi/full/10.1080/14622416.2024.2409060
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.01 - Izvirni znanstveni članek |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | Determining variant TPMT alleles to predict patient response to thiopurine therapy represents one of the first successful implementations of pharmacogenomics in clinical practice. However, despite the TPMT-adjusted thiopurine dosing, some TPMT wild-type patients still exhibit toxicity at standard doses. Over the past decade, the pharmacogene NUDT15 has emerged as a significant co-modulator of thiopurine therapy. Initially, NUDT15 was considered important predominantly in Asian populations, but recent studies have highlighted its relevance in European populations as well. To evaluate the pharmacogenetic significance of NUDT15 in the Slovenian population, we sequenced extended regions of exon 1 and exon 3 in 109 healthy individuals and 37 patients with acute lymphoblastic leukemia. We identified eight variants, including one with established clinical significance (allele *3) and one extremely rare variant (Chr13 at 48045861; GRCh38, NC_000013.11). The frequencies of most previously described variants in both the general population and in the ALL cohort were consistent with those reported in other European populations, except for rs45465203, which was less frequent in the Slovenian population. None of the variants, except for NUDT15*3, were associated with cumulative thiopurine doses in ALL patients. However, these variants warrant further investigation in larger ALL cohorts. |
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| Ključne besede: | 6-mercaptopurine, acutelymphoblastic leukemia, dose reduction, minorallele frequency, NUDT15, population genetics, thiopurines |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2024 |
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| Št. strani: | str. 515-525 |
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| Številčenje: | Vol. 25, no. 12-13 |
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| PID: | 20.500.12556/DiRROS-30162  |
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| UDK: | 616.155.392+575.17 |
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| ISSN pri članku: | 1744-8042 |
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| DOI: | 10.1080/14622416.2024.2409060 |
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| COBISS.SI-ID: | 213081347 |
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| Opomba: | Nasl. z nasl. zaslona;
Opis vira z dne 28. 10. 2024;
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| Datum objave v DiRROS: | 16.06.2026 |
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| Število ogledov: | 35 |
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| Število prenosov: | 16 |
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| Metapodatki: |    |
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