Cure8 research brief
Identifying genetic predictors of thiopurine-induced leukopenia could help prevent a serious drug side effect by improving pre-treatment genetic screening and dose decisions for people with IBD.
Clinicians prescribing thiopurines, pharmacogenomics researchers, patients starting or on azathioprine/6-mercaptopurine, and guideline developers.
The researchers analyzed whole-exome data from 218 thiopurine-treated IBD patients and examined associations between pharmacogenetic classifications (including NUDT15 and TPMT) and TIL, defined here as WBC ≤3000/µL. NUDT15 intermediate metabolizer status was strongly associated with higher TIL risk.
The authors also report that an IL6 genotype was independently associated with TIL and that adding IL6 to the TPMT/NUDT15 model improved sensitivity and negative predictive value in this cohort. The study population is Korean and the analysis is retrospective, so findings may not generalize to all ancestries.
The report describes genetic associations and potential utility for pre-emptive testing but does not provide prospective trial evidence that IL6 testing reduces clinical events.
Findings come from a retrospective analysis of Korean IBD cohorts using whole-exome sequencing; results should be validated in other ancestries and in prospective studies before changing routine testing.
Review the original publication for the complete reporting, methods, and context.
Funding disclosed by the source: Korean Association of Internal Medicine Research; National Research Foundation of Korea - 2023R1A2C3007686; Seoul National University Hospital
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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