A catalogue of polymorphisms related to xenobiotic metabolism and cancer susceptibility

Pharmacogenetics. 2002 Aug;12(6):459-63. doi: 10.1097/00008571-200208000-00006.

Abstract

High-throughput genotyping technology of multiple genes based on large samples of cases and controls are likely to be important in identifying common genes which have a moderate effect on the development of specific diseases. We present here a comprehensive list of 313 known experimentally confirmed polymorphisms in 54 genes which are particularly relevant for metabolism of drugs, alcohol, tobacco, and other potential carcinogens. We have compiled a catalog with a standardized format that summarizes the genetic and biochemical properties of the selected polymorphisms. We have also confirmed or redesigned experimental conditions for simplex or multiplex PCR amplification of a subset of 168 SNPs of particular interest, which will provide the basis for the design of assays compatible with high-throughput genotyping.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cytochrome P-450 Enzyme System / genetics*
  • Cytochrome P-450 Enzyme System / metabolism
  • DNA Ligases / genetics*
  • DNA Ligases / metabolism
  • DNA Mutational Analysis
  • Databases, Factual
  • Genes, Tumor Suppressor / physiology*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Neoplasms / genetics*
  • Neoplasms / metabolism*
  • Pharmacogenetics
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Tobacco Use Disorder / genetics*
  • Xenobiotics / metabolism*

Substances

  • RNA, Messenger
  • Xenobiotics
  • Cytochrome P-450 Enzyme System
  • DNA Ligases