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

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.

Keywords::

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

Acknowledgements

The author acknowledges the contributions of all investigators in the arylamine N-acetyltransferase field, particularly those who have worked with and generated data presented in this paper. The author also acknowledges the relevant research grants from the National Cancer Institute (R01-CA034627), the National Institute of Environmental Health Sciences (P30-ES014443) and the National Institute of Child Health and Development (U10-HD045934).

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