多巴胺β羟化酶基因多态性与帕金森病遗传易感性

Dopamine beta hydroxylase gene polymorphism and Parkinson's disease

目的 探讨多巴胺β羟化酶 ( dopamine beta hydroxylase,DBH)基因内含子 5 Taq 多态性与帕金森病遗传易感性的关系。方法 用聚合酶链反应 -限制性长度片段多态性技术检测了 14 4例原发性帕金森病患者和年龄及性别相匹配的 188名健康人多巴胺β羟化酶基因内含子 5 Taq 多态性。结果 与健康人比较 ,帕金森病患者 DBH基因内含子 5 Taq 基因型 ( A1/ A2 ,A2 / A2 )或等位基因 ( A1,A2 )的分布不同 ,两组之间的差异有显著性 (基因型 :A1/ A2 OR=0 .4 5 ,Z=10 .11,P<0 .0 1;A2 / A2 OR=2 .11,Z=10 .6 6 ,P<0 .0 1;等位基因 :A1 OR=0 .5 4 ,Z=10 .2 0 ,P<0 .0 1;A2 OR=1.82 ,Z=10 .89,P<0 .0 1)。结论 DBH基因 Taq

Objective: To investigate the correlation between the polymorphism of dopamine beta hydroxylase (DBH) gene and the susceptibility of Shanghai Chinese Han population to Parkinson's disease (PD). Methods: Association study was performed in 144 PD patients and 188 healthy control subjects matched for age, sex and origin. Polymorphism of DBH gene was analyzed with polymerase chain reaction-restricton fragement length polymorphism. Results: The allelic frequency of A2 allele of DBH gene was significantly higher in PD patients than in controls (P<0.01). The risk of suffering from PD increased (OR =1.82) in the individual with A2 allele. And the genotypic frequency of A2/A2 was significantly higher in PD patients (OR=2.11, P<0.01), too. On the other hand, the allelic frequency of A1 allele and the genotypic frequency of A1/A2 genotype of DBH gene in PD patients were significantly lower (A1 alleles: OR=0.54, P<0.01; A1/A2 genotypes: OR=0.45,P<0.01). Conclusion: The polymorphism in DBH gene might play an important role in the susceptibility of Shanghai Chinese Han population to PD.