ArticleThe pharmacogenomics journal2007
IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance.
Article in The pharmacogenomics journal, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 60 citations in OpenAlex.
- Nucleotide Metabolism in Health and Disease.MedComm · 2026Review
- The history and future of pharmacogenetics in Aotearoa/New Zealand.Journal of the Royal Society of New Zealand · 2025Review
- Perspectives in clinical research on Azathioprine for steroid-dependent ulcerative colitis.Frontiers in medicine · 2025Article
- TPMT and NUDT15 Variants Predict Discontinuation of Azathioprine for Myelotoxicity in Patients with Inflammatory Disease: Real-World Clinical Results.Clinical pharmacology and therapeutics · 2022Article
- Real-World Use of Azathioprine Metabolites Changes Clinical Management of Inflammatory Bowel Disease.Journal of the Canadian Association of Gastroenterology · 2021Article
- Precision medicine for rheumatologists: lessons from the pharmacogenomics of azathioprine.Clinical rheumatology · 2021Review
- GTP metabolic reprogramming by IMPDH2: unlocking cancer cells' fuelling mechanism.Journal of biochemistry · 2020Review
- Pharmacogenetics of immunosuppressant drugs: A new aspect for individualized therapy.World journal of transplantation · 2020Review
- Inosine Monophosphate Dehydrogenase Pharmacogenetics in Hematopoietic Cell Transplantation Patients.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2018Article
- Review
- Revisiting the Role of Thiopurines in Inflammatory Bowel Disease Through Pharmacogenomics and Use of Novel Methods for Therapeutic Drug Monitoring.Frontiers in pharmacology · 2018Review
- Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers.The pharmacogenomics journal · 2015Article
- Personalization of the immunosuppressive treatment in renal transplant recipients: the great challenge in "omics" medicine.International journal of molecular sciences · 2015Review
- Gene expression and thiopurine metabolite profiling in inflammatory bowel disease - novel clues to drug targets and disease mechanisms?PloS one · 2013Article
- Pharmacogenetic determinants of mercaptopurine disposition in children with acute lymphoblastic leukemia.European journal of clinical pharmacology · 2012Review
- IMPDH activity in thiopurine-treated patients with inflammatory bowel disease - relation to TPMT activity and metabolite concentrations.British journal of clinical pharmacology · 2008Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Around 9% of inflammatory bowel disease (IBD) patients are resistant to azathioprine. We hypothesized that these patients may carry mutations within inosine-5'-monophosphate dehydrogenase (IMPDH). To test this hypothesis, we screened 20 azathioprine-resistant patients for variations in the two IMPDH genes (IMPDH1 and IMPDH2) using dHPLC and DNA sequencing. A 9 bp insertion within the IMPDH1 P3 promoter was found in a patient exhibiting severe azathioprine resistance. The insertion is predicted to abolish a cAMP-response element (CRE) and was found to significantly reduce IMPDH1 P3 promoter activity in a luciferase reporter gene assay (P-value <0.001). This in vitro assay suggests the variant promoter has altered function in vivo and consequently may have contributed to the thiopurine resistance observed in this patient. The absence of functional variants within the other patients indicates that if IMPDH genetic variability contributes to azathioprine resistance it does so infrequently.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.