N-acetyltransferase SNPs: emerging concepts serve as a paradigm for understanding complexities of personalized medicine

Expert Opin Drug Metab Toxicol. 2009 Apr;5(4):353-66. doi: 10.1517/17425250902877698.

Abstract

Arylamine N-acetyltransferase 1 and 2 exhibit single nucleotide polymorphisms in human populations that modify drug and carcinogen metabolism. This paper updates the identity, location and functional effects of these single nucleotide polymorphisms and then follows with emerging concepts for understanding why pharmacogenetic findings may not be replicated consistently. Using this paradigm as an example, laboratory-based mechanistic analyses can reveal complexities such that genetic polymorphisms become biologically and medically relevant when confounding factors are more fully understood and considered. As medical care moves to a more personalized approach, the implications of these confounding factors will be important in understanding the complexities of personalized medicine.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Arylamine N-Acetyltransferase / chemistry
  • Arylamine N-Acetyltransferase / genetics*
  • Arylamine N-Acetyltransferase / physiology
  • Humans
  • Isoenzymes / chemistry
  • Isoenzymes / genetics*
  • Isoenzymes / physiology
  • Pharmacogenetics / methods
  • Pharmacogenetics / trends*
  • Polymorphism, Single Nucleotide / genetics*
  • Precision Medicine*

Substances

  • Isoenzymes
  • Arylamine N-Acetyltransferase
  • N-acetyltransferase 1
  • NAT2 protein, human