Detailed genotyping demonstrates association between the slow acetylator genotype for N-acetyltransferase 2 (NAT2) and familial Parkinson's disease

In a preliminary report we demonstrated an association between the slow ace tylator genotype of N-acetyltransferase 2 (NAT2) and familial cases of Park inson's disease (FPD). Using a considerably more precise NAT2 typing method , which detects all mutant NAT2 alleles with a frequency of >1% in the whit e population, we have now retyped all the original patients and control sub jects to investigate the reliability of our initial findings. The slow acet ylator genotype remained considerably more common among FPD (73%) than norm al control subjects (NPC, 43%) or the disease (Huntington's disease [HD]) c ontrol group (52%) with an odds ratio (OR) of 3.58 (95% confidence interval (CI): 1.96-6.56; p = 0.00003) far FPD venus NPC and an OR of 2.50 (95% CI: 1.37-4.56, p = 0.003) for FPD versus KD. Furthermore, the wild-type allele 4 conferred a protective effect with an OR of 0.39 (95% CI: 0.23-0.64; p = 0.0025) for FPD versus NPC and an OR of 0.50 (95% CI: 0.30-0.85, p = 0.01) for FPD versus HD. The results of this study support an association betwee n the NAT, slow acetylator genotype and FPD in our population.