Although considerable allelic variation exists for both NAT1 and NAT2, our understanding of the molecular mechanisms and functional significance of many of these alleles, particularly for NAT1, is still limited. Much of the research in the area of NATs has involved identifying relationships between allele frequencies and disease, particularly different forms of cancers. Although several studies have reported associations between different NAT alleles and various cancers, other studies have failed to do so. While these inconsistencies may be due to several factors, such as differences in exposure to arylamine carcinogens, it may well be that genotype does not necessarily accurately reflect phenotype.

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