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目的 探讨parkin基因启动子区 - 2 5 8T/G多态性位点与帕金森病 (Parkinson’sdisease,PD)的相关性 ,尤其是该多态与PD发病年龄的关系。方法 应用聚合酶链反应 (PCR)、变性高效液相和测序等方法分析parkin基因 - 2 5 8T/G多态性位点在PD患者和健康对照间分布频率的差异。结果 检测了 2 99例PD患者和 15 6名健康对照。总体分析发现 ,PD组G等位基因频率和T/G +G/G基因型频率高于对照组 ,但差异无显著意义。将PD组按年龄分层后 ,6 0岁以上PD患者parkin基因 -2 5 8T/G多态G等位基因频率 (5 6 6 % )明显高于健康对照组 (4 2 6 % ) ,OR =1 76 ,95 %CI为 1 15～2 6 9(P =0 0 0 6 4 ) ,而 6 0岁以下发病者与对照相比差异无显著意义。相应的基因型频率 (T/G +G/G)在 6 0岁以上发病PD组为 80 9% ,对照组为 6 9 9% ,两者虽未达统计学差异 ,但PD组明显高于对照组。OR =1 82 ,95 %CI为 0 87～ 3 88。年龄分层后的趋势分析显示相对危险度与PD发病年龄间存在正相关联系。结论 研究结果证实 - 2 5 8T/G多态可能是中国人晚发PD的一个危险因素。
Objective To investigate the association between the polymorphism of parkin gene promoter region (2558T / G) and Parkinson’s disease (PD), especially the relationship between the polymorphism and the age at onset of PD. Methods The frequency of parkin gene -258T / G polymorphism in patients with PD was compared with healthy controls by polymerase chain reaction (PCR), denaturing high performance liquid chromatography and sequencing. Results A total of 2 99 PD patients and 156 healthy controls were examined. Overall analysis found that, PD group G allele frequency and T / G + G / G genotype frequency higher than the control group, but the difference was not significant. After PD group was stratified by age, the frequency of G polymorphism of parkin gene -258T / G polymorphism (566%) in PD patients over 60 years old was significantly higher than that of healthy controls (42.6%), OR = 1 76, the 95% CI was 1 15 ~ 269 (P = 0 0 0 6 4), but there was no significant difference between the control group and the control group. The corresponding genotype frequency (T / G + G / G) was 80.9% in PD patients over 60 years old and 69.9% in control subjects, although the difference was not statistically significant Control group. OR = 1 82, 95% CI 0 87 ~ 3 88. Trend analysis after age stratification showed that there was a positive correlation between relative risk and age at onset of PD. Conclusion The results of the study confirm that -258T / G polymorphism may be a risk factor for late-onset PD in Chinese.