rs1800462
This is a missense variant in the TPMT gene.
Key Literature Trait Associations
Thiopurine Toxicity
TPMT*2 carries an A80P substitution that causes rapid protein degradation and near-complete loss of thiopurine methyltransferase activity. Carriers metabolize azathioprine and mercaptopurine poorly, leading to toxic accumulation of thioguanine nucleotides that causes life-threatening myelosuppression. CPIC recommends a 10-fold dose reduction for TPMT poor metabolizers, or use of alternative immunosuppressants.
Relling MV et al. “Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing.” Clinical Pharmacology and Therapeutics 89(3):387-391 (2011)
Allele G
OR —
p —
Candidate gene study
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
Gene information from NCBI Gene. Variant classifications from ClinVar.
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