N-acetyltransferase SNPs: emerging concepts serve as a paradigm for understanding complexities of personalized medicine.
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.
Hein
David W
DW
University of Louisville School of Medicine, James Graham Brown Cancer Center, Center for Environmental Genomics and Integrative Biology, Department of Pharmacology & Toxicology, Louisville, KY 40292, USA. d.hein@louisville.edu
D000818:Animals; D001191:Arylamine N-Acetyltransferase / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007527:Isoenzymes / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D010597:Pharmacogenetics / Q000379:methods / Q000639:trends*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D057285:Precision Medicine
D007527:Isoenzymes; D001191:Arylamine N-Acetyltransferase; C089384:N-acetyltransferase 1; C478900:NAT2 protein, human