Bandmann O, Vaughan J R, Holmans P, Marsden C D, Wood N W
University Department of Clinical Neurology, Institute of Neurology, London, UK.
Mov Disord. 2000 Jan;15(1):30-5. doi: 10.1002/1531-8257(200001)15:1<30::aid-mds1007>3.0.co;2-v.
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.
在一份初步报告中，我们证明了N-乙酰基转移酶2（NAT2）的慢乙酰化基因型与帕金森病家族病例（FPD）之间存在关联。使用一种更为精确的NAT2分型方法，该方法可检测出在白种人群中频率>1%的所有突变NAT2等位基因，我们现在对所有原始患者和对照受试者进行了重新分型，以调查我们最初研究结果的可靠性。与正常对照受试者（NPC，43%）或疾病（亨廷顿舞蹈病[HD]）对照组（52%）相比，慢乙酰化基因型在FPD患者中（73%）仍然更为常见，FPD与NPC相比的优势比（OR）为3.58（95%置信区间[CI]：1.96 - 6.56；p = 0.00003），FPD与HD相比的OR为2.50（95% CI：1.37 - 4.56，p = 0.003）。此外，野生型等位基因4具有保护作用，FPD与NPC相比的OR为0.39（95% CI：0.23 - 0.64；p = 0.0025），FPD与HD相比的OR为0.50（95% CI：0.30 - 0.85，p = 0.01）。本研究结果支持了我们所研究人群中NAT2慢乙酰化基因型与FPD之间的关联。
