Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE Recent large-scale clinical studies revealed a strong association between the NUDT15 p.Arg139Cys (NUDT15<sup>R139C</sup>) polymorphism and severe thiopurine-induced leukocytopenia. 31645647

2020

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE Our results indicate that careful monitoring of leukopenia and dose adjustment are necessary throughout treatment in IBD patients heterozygous for the NUDT15 R139C. 31045285

2019

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE A significantly higher thiopurine-induced leukopenia risk was found for TPMT (OR 3.9, 95% [CI] 2.5-6.1) and for NUDT15 R139C (OR 6.9, 95% CI 5.2-9.1), G52A (OR 3.2, 95% CI 1.3-7.9) and 36_37ins/delGGAGTC variant carriers (OR 5.6, 95% CI 2.8-11.4). 31342537

2019

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE 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). 29923122

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE NUDT15 R139C Variants Increase the Risk of Azathioprine-Induced Leukopenia in Chinese Autoimmune Patients. 29867468

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE Results of meta-regression analysis showed that incidence of leukopenia (relative DOR: 0.96; 95%CI: 0.93-1.00, p = 0.037) and leukopenia onset (late vs early leukopenia, relative DOR: 0.41, 95% CI 0.20-0.85, p = 0.0189) significantly influenced diagnostic accuracy of rs116855232. 30048756

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE CYP2D6 rs1135840 and NUDT15 rs116855232 increased the risks of hepatotoxicity and leukopenia with an odds ratio of 2.52 and 4.97, respectively. 29071720

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE The results of this meta-analysis confirm that NUDT15 c.415C>T may be an important predictor of thiopurine-induced leukocytopenia in Asians. 28470355

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE NUDT15 intermediate activity variant, that is, heterozygous rs116855232 or rs186364861 variant, and the ABCC4 rs3765534 variant showed leukopenia more frequently than either variant alone. 28418010

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation GWASCAT 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). 29923122

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE In this report, we first provide detailed clinical and laboratory characteristics of AZA-induced leukopenia in a patient with SS with a mutant NUDT15 R139C genotype (TT allele) and normal TPMT activity. 29702976

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE A genome-wide association approach to identify Asian-specific pharmacogenetic markers in Korean patients with Crohn's disease revealed that a non-synonymous single nucelotide polymorphism in nucleoside diphosphate-linked moiety X-type motif 15 (NUDT15) which causes p.Arg139Cys was strongly associated with thiopurine-induced early leukopenia. 29192347

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE NUDT15 rs116855232 variants were strongly associated with a higher cumulative incidence of neutropenia (p < 0.01), and a lower median dose of tolerated MP throughout maintenance treatment (p < 0.01). 28882023

2018

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE NUDT15 variant (rs116855232) has been recently identified as a novel polymorphism related with thiopurine-induced leucopenia in inflammatory bowel disease and ALL. 28963908

2017

dbSNP: rs116855232
rs116855232
C 0.800 GeneticVariation GWASCAT A coding variant in FTO confers susceptibility to thiopurine-induced leukopenia in East Asian patients with IBD. 27558924

2017

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE Variant allele of rs116855232 contributes 7.86-fold (P < 0.00001, 95% CI: 6.13-10.08) higher risk to develop leucopenia with high specificity (91.74%) and sensitivity (43.19%), and lower thiopurines intolerance dose (P < 0.00001). 28088792

2017

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE Therefore, the NUDT15 p.R139C variant is common and strongly associated with AZA-induced early leukopenia and severe alopecia in Korean patients with various neurological diseases. 28566182

2017

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE Combined detection of the 3 variants could increase the predictive sensitivity of thiopurine-induced leukopenia and help to distinguish early leukopenia in heterozygote of c.415C>T in Chinese patients with IBD. 28570428

2017

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE Recently, few studies reported on an inherited nucleoside diphosphate-linked moiety X motif 15 (NUDT15) c.415C>T low-function variant that is associated with decreased thiopurine metabolism and leukopenia in childhood acute lymphoblastic leukemia (ALL) and other diseases. 27577869

2017

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE Three non-synonymous SNPs, which we previously reported association with thiopurine-induced leukopenia, NUDT15 (p.Arg139Cys), SUCLA2 (p.Ser199Thr), and TPMT *3C were selected for epistasis analysis with the XDH variants. 26863601

2016

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE These results suggest that NUDT15 R139C-related thiopurine-induced leukocytopenia is mediated by a 6-TGN-independent mechanism. 26590936

2016

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE In addition to the mutations of TPMT gene, the NUDT15 c.415C>T variant was recently identified to have a strong association with thiopurine-induced early leukopenia. 26735160

2016

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE NUDT15 R139C was strongly associated with the incidence of leukopenia (70.2% mutation vs. 12.8% wild type; P=8.61×10<sup>-19</sup> ; odds ratio, 10.80; 95% CI, 5.89-19.83). 27604507

2016

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE NUDT15 c.415C>T may be another predictor of AZA-induced leukocytopenia. 27381176

2016

dbSNP: rs116855232
rs116855232
0.800 GeneticVariation BEFREE We also verified the previously reported association of R139C with early leukopenia in a different East Asian population. 26076924

2016