Gene: NUDT15

Alternate names for this Gene: MTH2|NUDT15D

Gene Summary: This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified.

Gene is located in Chromosome: 13

Location in Chromosome : 13q14.2

Description of this Gene: nudix hydrolase 15

Type of Gene: protein-coding

rs116855232 in NUDT15 gene and Alopecia PMID 29923122 2018 We confirmed the association of NUDT15 p.Arg139Cys with leukopenia and alopecia (p = 2.20E-63, 1.32E-69, OR = 6.59, 12.1, respectively), and found a novel association with digestive symptoms (p = 6.39E-04, OR = 1.89).

rs116855232 in NUDT15 gene and Crohn Disease PMID 25108385 2014 A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia.

rs116855232 in NUDT15 gene and Inflammatory Bowel Diseases PMID 27558924 2017 A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD.

PMID 29923122 2018 NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.

rs116855232 in NUDT15 gene and Leukopenia PMID 25108385 2014 We identified a nonsynonymous SNP in NUDT15 (encoding p.Arg139Cys) that was strongly associated with thiopurine-induced early leukopenia (odds ratio (OR) = 35.6; P(combined) = 4.88 × 10(-94)).

PMID 29923122 2018 We confirmed the association of NUDT15 p.Arg139Cys with leukopenia and alopecia (p = 2.20E-63, 1.32E-69, OR = 6.59, 12.1, respectively), and found a novel association with digestive symptoms (p = 6.39E-04, OR = 1.89).

PMID 27558924 2017 A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD.