Nudix hydrolase 15 (NUDT15) loss-of-function variants in an Australian inflammatory bowel disease population.

ABSTRACT:

Background

Thiopurine-related adverse events such as leukopenia, liver dysfunction and pancreatitis are associated with variants in the NUDT15 gene. Loss-of-function (low or no enzyme activity) alleles are more common in Asian and Hispanic populations. The prevalence of these variants in the Australian inflammatory bowel disease (IBD) population has not yet been reported.

Aim

To evaluate the presence of NUDT15 loss-of-function alleles *2,*3,*9 in the Australian IBD population.

Methods

The NUDT15 screening cohort included 423 IBD patients from Brisbane, Australia. Study patients were recruited by: (i) retrospective review of clinical charts for thiopurine-related severe adverse events; (ii) pathology data (white blood cell (WBC) and neutrophil counts). NUDT15 genotypin

SUBMITTER: Afrin S 

PROVIDER: S-EPMC9796699 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature