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Detailed genotyping demonstrates association between the slow acetylator genotype for N‐Acetyltransferase 2 (NAT2) and familial parkinson's disease
Author(s) -
Bandmann Oliver,
Vaughan Jenny R.,
Holmans Peter,
Marsden C. David,
Wood Nicholas W.
Publication year - 2000
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/1531-8257(200001)15:1<30::aid-mds1007>3.0.co;2-v
Subject(s) - genotype , odds ratio , allele , confidence interval , medicine , genotyping , case control study , gastroenterology , population , genetics , pathology , biology , environmental health , gene
Abstract In a preliminary report we demonstrated an association between the slow acetylator genotype of N‐acetyltransferase 2 (NAT2) and familial cases of Parkinson's disease (FPD). Using a considerably more precise NAT2 typing method, which detects all mutant NAT2 alleles with a frequency of >1% in the white population, we have now retyped all the original patients and control subjects to investigate the reliability of our initial findings. The slow acetylator genotype remained considerably more common among FPD (73%) than normal control subjects (NPC, 43%) or the disease (Huntington's disease [HD]) control group (52%) with an odds ratio (OR) of 3.58 (95% confidence interval (CI): 1.96–6.56; p = 0.00003) for FPD versus NPC and an OR of 2.50 (95% CI: 1.37–4.56, p = 0.003) for FPD versus HD. 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 between the NAT2 slow acetylator genotype and FPD in our population.