泛素羧基端水解酶-L1基因两种多态与帕金森病发病的相关性

目的 探讨泛素羧基端水解酶-L1基因(ubiquitin carboxy-terminal hydrolase-L1,UCH-L1)第3外显子C/A多态、第4外显子C/T多态与帕金森病(Parkinson's disease,PD)发病风险的关系.方法 采用聚合酶链反应-限制性片段长度多态性方法,在164例PD患者和172名健康对照者中观察UCH-L1基因C/A和C/T多态的分布,并通过比值比(odds ratio,OR)进行相关分析.结果 (1)PD患者中UCH-L1第3外显子上C等位基因的频率(62.2%)明显高于对照组(51.7%)(OR=1.53,P=0.006),PD患者CC基因型的频率(36.6%)亦明显高于对照组(23.2%)(OR=1.90,P=0.008).(2)PD患者中UCH-L1第4外显子上C/T等位基因和基因型的频率分布在PD患者和对照组间差异无统计学意义.结论 UCH-L1第3外显子上c等位基因可能是PD发病的危险因子,而第4外显子上的C/T多态则与PD发病无关.

Association of two polymorphisms in ubiquitin carboxy-terminal hydrolase-L1 gene with Parkinson's disease in Shanghai

OBJECTIVE: To explore the relationship of polymorphisms in the ubiquitin carboxy-terminal hydrolase-L1 (UCH-L1) gene with Parkinson's disease(PD)in Shanghai Han Nationality. METHODS: The distribution of a Serine18Tyrosine polymorphism in exon 3(C/A) and a Serine89Phenylalanine polymorphism in exon 4(C/T)of UCH-L1 gene were detected in 164 PD cases and 172 healthy controls, using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method. RESULTS: (1)The C allelic frequency in exon 3 of UCH-L1 gene in PD patients(62.2%) was significantly higher than that of the healthy controls(51.7%) (OR=1.53, P=0.006), as was the C/C genotype(OR=1.90, P=0.008). (2)There was no significant difference in the distribution of the C/T allele and genotypes in exon 4 between PD patients and healthy controls. CONCLUSION: The C allele in exon 3 of UCH-L1 gene might be one of the risk factors for PD in Shanghai Han Nationality, but the polymorphisms of C/T in exon 4 showed no association with the onset of PD.