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ABSTRACT
N-acetyltransferases (NAT) are involved in the metabolic activation and deactivation of environmental carcinogens, such as arylamines. Several epidemiological studies evaluated the role of NAT1 and NAT2 polymorphisms in a number of cancers. The suspected role of polycyclic aromatic hydrocarbons in the etiology of Balkan Endemic Nephropathy (BEN), as well as the high risk of uroepithelial tumor development in BEN patients necessitates clarification of the role of xenobiotic metabolizing enzymes for BEN susceptibility. The aim of this study was to determine the frequency of different polymorphisms in N- acetyltransferases in patients with BEN and to define the role NAT1 and NAT2 as candidate modifiers of BEN susceptibility.
96 Bulgarian BEN patients and 112 healthy Bulgarians as controls were genotyped for NAT1 (C559T, G560A, T640G, T1088A, C1095A) and NAT2 (C282T, T341C). Rapid cycle PCR followed by melting curve analysis was used for genotyping.
The frequencies of NAT1 and NAT2 polymorphisms were similar in BEN patients and controls. The data did not reveal a significantly elevated risk for BEN with NAT1 alleles *3, *10 and *11. NAT2 slow acetylators, predicted by C282T and T341C, also did not show an increased risk for BEN.
For the first time the frequencies of different polymorphisms in NAT1 and NAT2 in patients with BEN and in the healthy Bulgarian population were established. No evidence for a predisposing role of N- acetyltransferases in the development of BEN was revealed. This study needs conformation in other endemic regions of Balkan countries.