Steitz, Alyssa; Daniel, Laura L.; Nepal, Puran; Dickson, Alyson L.; Zanussi, Jacy; Miller-Fleming, Tyne W.; Straub, Peter S.; Wei, Wei-Qi; Liu, Ge; Maizel, Jennifer; Cox, Nancy J.; Hung, Adriana M.; Feng, QiPing; Stein, C. Michael; Chung, Cecilia P. (2026).Ìý.ÌýBMC Pharmacology and Toxicology, 27(1), 89.Ìý
Some people experience serious side effects from azathioprine, a medication commonly used to treat autoimmune diseases, and genetic differences can influence that risk. While variants in the TPMTÌý²¹²Ô»åÌýNUDT15 genes are already known to increase the likelihood of myelotoxicity (damage to the bone marrow that can reduce blood cell production), other genetic factors remain less well understood. In this study, the researchers used PrediXcan, a computational method that estimates how strongly a person’s genes are likely to be expressed based on their genetic data, to investigate whether predicted gene expression was associated with known azathioprine side effects. They analyzed data from 1,364 people who had recently started azathioprine and found that individuals with the lowest predicted expression of the TPMT gene had more than three times the odds of developing leukopenia (a low white blood cell count) compared with those with the highest predicted TPMT expression. No significant associations were found for other known side effects. These findings suggest that approaches such as PrediXcan may help identify additional genetic factors that influence how people respond to medications, supporting more personalized treatment in the future.

Fig 1
Predicted expression of TPMT in liver tissue by TPMT phenotype group