Overview of Pharmacogenetics

David A. Katz1, Anahita Bhathena1

1 Abbott Laboratories, Abbott Park, Illinois
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 9.19
DOI:  10.1002/0471142905.hg0919s60
Online Posting Date:  January, 2009
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Pharmacogenetics is the study of relationships between genetic variation and inter‐individual differences with respect to drug response. As the field has matured over the past 15 years, a remarkable diversity of pathways, variation types, and mechanisms have been found to be relevant pharmacogenetic factors. Today, pharmacogenetics is becoming more important in pharmacology for target validation, lead optimization, and understanding of idiosyncratic toxicity. This unit provides an overview of the history of pharmacogenetics and current research applications in drug discovery, as well as a discussion of research quality issues relevant for human subjects research in the pharmacogenetics laboratory. Curr. Protoc. Hum. Genet. 60:9.19.1‐9.19.23. © 2009 by John Wiley & Sons, Inc.

Keywords: pharmacogenetics; genotype‐phenotype correlations; drug discovery; toxicogenomics; drug development

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Table of Contents

  • Introduction
  • The Diversity of Pharmacogenetics
  • Applications in Drug Discovery
  • Applications in Drug Development
  • Clinical Use
  • A Final Word: Technologies
  • Literature Cited
  • Figures
  • Tables
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Internet Resources
  The Online Mendelian Inheritance in Man (OMIM) Web site. An annotated database containing information about genes and genetic variants. From the OMIM entry for a gene, it is possible to link to most other major Internet resources on that gene. This is the best place from which to gather gene‐centric information.
  PharmGKB, a database of candidate gene polymorphisms maintained via the NIH Pharmacogenetics Research Network (PRN). This group comprises investigators who are funded by a targeted NIGMS grant program. The site includes information about genes studied by PRN investigators, upcoming scientific meetings and the individual PRN centers.
  The human cytochrome P450 metabolism database (Rendic, ; see ). This is a searchable database of substrates, inhibitors and inducers of human cytochromes P450.
  Homepage of the Human Cytochrome P450 Allele Nomenclature Committee. This is an up‐to‐date catalog of known sequence variants of human cytochromes P450. Unfortunately, it does not include allele frequency, and lists rare alleles, even those that have been observed only once.
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