Pediatrics and neonatology
October 8, 2026 · via Europe PMC
The prevalence and impacts of NUDT15 variants in pediatric-onset inflammatory bowel disease patients in Taiwan.
Chen WT, Yang YL, Yu CH, Tai CS, Chang KC, Chen HL, Ni YH, Wu JF
AI summary — for doctors, generated from the abstract only
NUDT15 variants were common in Taiwanese children with IBD and strongly linked to thiopurine neutropenia, so pre-treatment genotyping is worth considering.
What was studied
Study of 73 pediatric-onset IBD patients at one hospital genotyped for NUDT15 and classified as normal, intermediate or poor metabolisers, with neutropenia analysed in thiopurine users.
Key findings
- 79.45% were normal, 16.44% intermediate and 4.11% poor metabolisers.
- Neutropenia occurred in 9 of 48 thiopurine users, with severe neutropenia in 3 (two poor metabolisers).
- Intermediate or poor metabolisers had far higher odds of neutropenia (OR 13.39, 95% CI 2.50-71.64).
Clinical relevance
Preemptive genotyping can allow dose reduction or alternatives before thiopurine toxicity occurs.
Who should care
Limitations
Small single-centre sample with a wide confidence interval and few severe events.
Genotype NUDT15, including *3 and *6, before starting thiopurines in children of East Asian ancestry.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
BACKGROUND
Thiopurines are important therapeutic agents for patients with inflammatory bowel disease (IBD), and the Nudix hydrolase 15 (NUDT15) gene has been reported to be associated with the safety of thiopurine use. We investigated the prevalence of NUDT15 variants and their impacts in the pediatric-onset IBD group in Taiwan.
METHODS
Seventy-three pediatric-onset IBD patients followed up at National Taiwan University Hospital from 2023 to 2025 were recruited. Every patient had NUDT15 genotyping and was classified as one of three phenotypes: the normal, intermediate, and poor metabolizers. The association of NUDT15 genotypes, phenotypes, thiopurine dosage, and absolute neutrophil count (ANC) was analyzed.
RESULTS
According to NUDT15 genotypes, 58 patients (79.45%) were normal metabolizers, 12 (16.44%) were intermediate metabolizers, and 3 (4.11%) were poor metabolizers in this cohort. Neutropenia occurred in 9 of 48 patients (18.75%) who had thiopurine use. Three thiopurine users (6.25%) developed severe neutropenia, including two poor metabolizers. The intermediate and poor metabolizers are significantly associated with neutropenia in thiopurine users (OR = 13.39, 95% CI = 2.50-71.64, p = 0.002). The mutant allele NUDT15*3 and NUDT15*6 had a higher frequency in our cohort than the East Asian group.
CONCLUSION
The NUDT15 variants are significantly associated with neutropenia in thiopurine users. The prevalence of poor metabolizers is higher in our study group compared to other East Asian areas, and the distribution of NUDT15 genotypes is different. Preemptive NUDT15 genotyping, including NUDT15*3 and NUDT15*6, should be considered in the pediatric-onset IBD group.
DOI
10.1016/j.pedneo.2026.06.014
PMID
42907239
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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