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

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出版社

TAYLOR & FRANCIS LTD
DOI: 10.1517/17425250902877698

关键词

acetylator polymorphism; N-acetyltransferase 1; N-acetyltransferase 2; personalized medicine; single nucleotide polymorphisms

资金

  1. National Cancer Institute [R01-CA034627]
  2. National Institute of Environmental Health Sciences [P30-ES014443]
  3. National Institute of Child Health and Development [U10-HD045934]

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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.

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