N-乙酰基转移酶基因多态性与早发性帕金森病关系的研究

目的：探讨N－乙酰基转移酶基因（NAT2）的多态性所导致的慢乙酰化基因型与早发性帕金森病（PD）的关系。方法：利用聚合酶链式反应－限制性片段长度多态性（PCR－RFLP）技术分析了126例早发性帕金森病患者（发病年龄≤50岁）与122名正常健康成人对照组NAT2基因3个常见突变的等位基因M1、M2、M3的分布频率，比较慢乙酰化基因型在早发性PD病人与正常人之间的分布差异。结果：等位基因M1、M2、M3在病例组中的分布频率分别为87．7％、26．6％、13．1％；在对照组中为2．9％、19．3％、14．8％，等位基因M1在两组中之间差异有显著意义（P＝0．005）。病例组慢乙酰化型基因频率为23．0％，对照组为10．7％，两者差异有显著意义（P＝0．009）。OR值为2．507。结论N－酰基转移酶慢乙酰化基因型可能与早发性PD的发病有关。

Relationship between genetic polymorphism of N-acetyltransferase and early-onset Parkinson disease

Objective To investigate the relationship between the slowacetylator genotype induced by the genetic polymorphism of N-acetyltransferase 2 (NAT2) gene and the early-onset Parkinson disease. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used and three mutant alleles M1, M2 and M3 of NAT2 were studied in 126 patients with idiopathic early-onset Parkinson disease and 122 age-matched randomly selected controls. Results The frequencies of alleles M1, M2 and M3 of NAT2 in patients were 8.7%,26.6% and 13.1%,respectively,however,there were 2.9%,19.7% and 14.8% in controls, respectively. The difference in frequency of allele M1 was statistically significant(P=0.005). The frequency of slow acetylator genotype was higher in patients (23.0%) than in controls (10.7%), showing an OR of 2.507(P=0.009). Conclusion Our study suggests that the slow acetylator genotype of N-acetyltransferase 2 might be associated with the occurrence of the idiopathic early-onset Parkinson′s disease.