Assessment of thiopurine S-methyltransferase allele frequencies and phenotype–genotype concordance in a Tunisian population

Overall, 12.5 % of the Tunisian subjects were found to carry the <i>TPMT</i> *3C allele. However, detecting novel and rare TPMT alleles within a larger cohort essential for more accurate estimation of genotype-phenotype correlation in our population. Combining genotyping and phenotyping is likely represents the most effective approach to prevent life-threatening myelosuppression associated with thiopurines.

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Publication Details

Journal
Drug Metabolism and Personalized Therapy
Published
2025-05-28
DOI
https://doi.org/10.1515/dmpt-2025-0001
Primary Topic
Acute Lymphoblastic Leukemia research
Type
article
Field-Weighted Citation Impact
0.00
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article

Assessment of thiopurine S-methyltransferase allele frequencies and phenotype–genotype concordance in a Tunisian population

Syrine Ben Hammamia, Emna Gaïes, Hanène El Jebari, Wissem Ben Azzouz et al.
Drug Metabolism and Personalized Therapy
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Assessment of thiopurine S-methyltransferase allele frequencies and phenotype–genotype concordance in a Tunisian population

Syrine Ben Hammamia, Emna Gaïes, Hanène El Jebari, Wissem Ben Azzouz, Mouna Daldoul, Rim Charfi, Riadh Daghfous, Mohamed Zouari, Sameh Trabelsi, Mouna Ben Sassi, Safa Souissi
article en

Abstract

Overall, 12.5 % of the Tunisian subjects were found to carry the <i>TPMT</i> *3C allele. However, detecting novel and rare TPMT alleles within a larger cohort essential for more accurate estimation of genotype-phenotype correlation in our population. Combining genotyping and phenotyping is likely represents the most effective approach to prevent life-threatening myelosuppression associated with thiopurines.

Drug Metabolism and Personalized TherapyVol. 40(3)
Faculté de médecine de Tunis, Tunis El Manar University (TN)
Openalex Percentile: Top 83%
Acute Lymphoblastic Leukemia research
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