Article
Genomewide Approach Validates Thiopurine Methyltransferase Activity Is a Monogenic Pharmacogenomic Trait.
Clinical pharmacology and therapeutics - 1 Mar 2017
Liu C, Yang W, Pei D, Cheng C, Smith C, Landier W, Hageman L, Chen Y, Yang J J, Crews K R, Kornegay N, Karol S E, Wong F L, Jeha S, Sandlund J T, Ribeiro R C, Rubnitz J E, Metzger M L, Pui C-H, Evans W E, Bhatia S, Relling M V
Abstract excerpt
We performed a genomewide association study (GWAS) of primary erythrocyte thiopurine S-methyltransferase (TPMT) activity in children with leukemia (n = 1,026). Adjusting for age and ancestry, TPMT was the only gene that reached genomewide significance (top hit rs1142345 or 719A>G; P = 8.6 × 10-61 ). Additional genetic variants (in addition to the three single-nucleotide polymorphisms [SNPs], rs1800462, rs1800460,...
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