pharmacogenetic susceptibility for drug-specific adverse drug reactions

Question 1

Marker for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis

Answer 1

HLA B*15:02

Question 2

Marker for Statin-induced rhabdomyolysis (rare) whose risk is four times greater with single defective allele, 16 times greater with two defective alleles (simvastatin)

Answer 2

SLCO1B1 (solute carrier organic anion transporter 1B1)

Question 3

Marker for abacavir-induced hypersensitivity reactions with fever, rash, lethargy and abdominal and acute respiratory symptoms.

Higher CD8 cell count at start of therapy

Answer 3

HLA-B*57:01

Question 4

1 in 10 individuals are heterozygous (50% normal TPMT activity) and 1 in 300 have completely deficient activity. Thiopurine-induced myelosuppression is associated with TPMT activity.

Answer 4

TPMT activity