rs1800460
This is a missense variant in the TPMT gene.
Key Literature Trait Associations
Thiopurine Toxicity
TPMT*3B carries an A154T substitution and is usually found in cis with rs1142345 (Y240C) as TPMT*3A, the most common non-functional TPMT allele in Europeans (~5% allele frequency). The A154T change causes protein misfolding and degradation, abolishing TPMT enzymatic activity. CPIC recommends substantial dose reductions of azathioprine and mercaptopurine for carriers of non-functional TPMT alleles.
▶ClinVar annotation
Thiopurine S-methyltransferase deficiency; not provided; TPMT-related disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatmentReviewJürgen Brockmöller et al.(2008)· European Journal of Clinical Pharmacology
This comprehensive review article traces the evolution of pharmacogenetics from single-gene analysis to whole-genome approaches. It discusses validated pharmacogenetic biomarkers with clinical impact including CYP2D6, CYP2C9, CYP2C19, TPMT, DPD, VKORC1, UGT1A1, and ADRB1/ADRB2, providing examples of how genetic variants affect drug metabolism and response. The paper emphasizes the importance of integrating pharmacogenetic information into clinical practice and drug development.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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