rs10949482 - NHLRC1

Magnitude 2.0 · 1 study on file

Reported associations

• NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia. - Leukemia (2019) · Tulstrup M, Grosjean M, Nielsen SN, Grell K, Wolthers BO, Wegener PS, Jonsson OG, Lund B, Harila-Saari A, Abrahamsson J, Vaitkeviciene G, Pruunsild K, Toft N, Holm M, Hulegårdh E, Liestøl S, Griskevicius L, Punab M, Wang J, Carroll WL, Zhang Z, Dalgaard MD, Gupta R, Nersting J, Schmiegelow K · PubMed 30201983

  The antileukaemic drug 6-mercaptopurine is converted into thioguanine nucleotides (TGN) and incorporated into DNA (DNA-TG), the active end metabolite. In a series of genome-wide association studies, we analysed time-weighted means ( ) of erythrocyte concentrations of TGN (Ery-TGN) and DNA-TG in 1009 patients undergoing maintenance therapy for acute lymphoblastic leukaemia (ALL). In discovery analyses (454 patients), the propensity for DNA-TG incorporation ( DNA-TG/ Ery-TGN ratio) was significantly associated with three intronic SNPs in NT5C2 (top hit: rs72846714; P = 2.09 × 10 , minor allele frequency 15%). In validation analyses (555 patients), this association remained significant during both early and late maintenance therapy (P = 8.4 × 10 and 1.3 × 10 , respectiv

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