N -Acetyltransferase 2 Polymorphism Is Not Related to the Risk of Advanced Alcoholic Liver Disease

2002 
Background: Ethanol abuse is the most prevalent cause of liver cirrhosis in Spain. Genetic polymorphisms affect the activity of the enzymes involved in ethanol metabolism and in processing the toxic by-products generated in the liver. N -acetyltransferase 2 (NAT2) is a polymorphic phase 2 enzyme not involved in these processes, but recent data suggest that the most prevalent slow acetylator genotype protects against the risk of advanced alcoholic liver disease (ALD). We have identified six single nucleotide polymorphisms (SNP) at the NAT2 gene locus in order to disclose whether such an association exists. Methods: Genomic DNA from 95 ALD patients (15 with superimposed hepatocellular carcinoma (HCC)) and from 258 healthy individuals was analysed for SNPs at the coding region of the NAT2 gene by means of allele-specific polymerase chain reaction. Results: There are no differences in the relative frequencies of the eight identified NAT2 alleles (including the wild-type allele) nor in the distribution of pred...
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