The Use of Genetics in Guiding Therapy

UGT1A1 Genetic Variants

June 2012

Numerous UGT1A1 alleles can lead to deficient UGT1A1 activity. The most common allele that occurs in many populations occurs in the promoter region of the gene. The UGT1A1 promoter contains a TA repeat region that can have 5-8 TA repeats. Normal or wild-type activity of UGT1A1 is associated with 6 TA repeats. Deficient UGT1A1 activity occurs with 7 or 8 TA repeats, also known as *28 and *37, respectively, and these alleles are also associated with hyperbilirubinemia and irinotecan toxicity.

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UGT1A1 Genetic Variants

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• Introduction
• Pharmacogenomics
• PGx Biomarkers in Drug Labels
• FDA-Approved Drugs with PGx-Related Label Information
• FDA-Approved Drugs with PGx-Related Label Information
• The FDA and PGx-Related Drug Label Updates
• Clopidogrel (Plavix)
• CYP2C19 and Response to Clopidogrel
• CYP2C19 and Response to Clopidogrel (cont)
• CYP2C19 PGx Testing for Clopidogrel
• Mayo CYP2C19 Test
• The FDA and PGx-Related Drug Label Updates
• Warfarin
• Warfarin PGx
• Allele Frequencies
• Medco-Mayo Warfarin Effectiveness Study
• Mayo Test for Warfarin Sensitivity
• FDA-Approved Drugs with PGx-Related Label Information
• Most Psychotropic Medications Are Metabolized by CYPs
• CYP450 Testing — Psychotherapeutics
• CYP2D6
• Mayo Test for CYP2D6
• Mayo Tests for CYP2D6
• Additional Mayo Tests for Psychiatric Applications
• The FDA and PGx-Related Drug Label Updates
• UGT1A1
• Irinotecan Metabolism
• UGT1A1 Genetic Variants
• Mayo Tests for UGT1A1
• The FDA and PGx-Related Drug Label Updates
• Human Leukocyte Antigens and Drug Hypersensitivity
• HLA-B*1502
• Mayo Test for HLA-B*1502
• HLA-B*5701
• Mayo Test for HLA-B*5701
• Summary
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