Cure8 research brief
NUDT15 variants strongly affect how people metabolize thiopurine drugs used in IBD; knowing variant frequency helps decide whether routine pre-treatment genotyping is useful in Iran and among specific ethnic groups.
Clinicians prescribing thiopurines in Iran or to patients of Iranian descent, pharmacogenetics researchers, and guideline developers concerned with thiopurine safety.
This study analyzed 1,202 unrelated Iranian exomes from the Iranome resource to calculate the frequency of the NUDT15 c.415C>T variant across 12 ethnic subgroups.
The overall allele frequency was 3.16%, with subgroup variation (1.0%–10.0%), and the authors estimate ~5.8% of individuals would be intermediate or poor thiopurine metabolizers per CPIC genotype-to-phenotype translation.
The authors conclude the variant is sufficiently common — especially in some subgroups such as Turkmen — to support incorporating NUDT15 genotyping into pre-thiopurine testing in Iran. The article is a preprint based on population genomic data and provides estimated phenotype distributions rather than clinical outcomes.
Findings are based on a public whole-exome dataset and CPIC genotype-to-phenotype rules; the article is a preprint and does not include clinical outcome data linking genotypes to thiopurine toxicity in the studied individuals.
Review the original publication for the complete reporting, methods, and context.
This Cure8 brief is based on source text from the linked article. Cure8 is informational only and is not a substitute for professional medical advice, diagnosis, or treatment.
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