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.