【摘要】 目的　探讨细胞色素P 45 0酶基因多态性与帕金森病 (PD)的关系。方法　选择确诊的PD患者 15 8例和正常人 15 0例 ,应用聚合酶链反应 限制性片段长度多态性技术和等位基因特异性扩增技术检测CYP1A1及CYP2E1基因多态性 ,并分析比较早发和晚发PD组与相应对照组间多态性频率的差异。结果　 (1)CYP1A1基因MspI多态位点 ,各等位基因和基因型分布在早发PD组与其对照组间差异有显著意义 (分别P <0 .0 0 5 ;P <0 .0 5 ) ,其中等位基因m2使患PD的危险度提高了 2 .45 9倍(P <0 .0 0 5 ) ;m1m2、m2m2基因型使患PD的危险度分别提高了 2 .99倍 (P <0 .0 1)和 6 .2 2倍 (P <0 0 2 5 )。晚发PD组与其对照组间各等位基因和基因型分布差异无显著意义 (均P >0 .0 5 )。 (2 )CYP1A1基因 7号外显子A4889G多态位点 ,各等位基因和基因型分布在早发PD组与其对照组间差异有显著意义 (均P <0 .0 0 5 ) ,其中等位基因G使患PD的危险度提高了 2 .432倍 (P <0 .0 0 5 ) ;GG基因型使患PD的危险度提高了 6 .16 7倍 (P <0 .0 1) ;G等位基因频率在晚发PD组高于对照组 ,使患PD的危险度提高了 1.6 49倍 (P <0 .0 1) ,但 2组间各基因型分布差异无显著意义 (均P >0 .0 5 )。 (3)CYP2E1基因RsaI和PstI多态位点各等位基因和基因型分布在早发PD?更多还原

【Abstract】 Objective To explore the association between cytochrome P 450 enzyme gene polymorphisms and Parkinson’s disease (PD). Methods The polymorphisms of CYP1A1 and CYP2E1 gene were analyzed in 158 PD patients and 150 unrelated healthy controls with PCR RFLP and ASA techniques. Results (1) Of the 46 patients with early onset PD, the frequency of the m2 allele was significantly higher than that in their matched controls, with an odds ratio of 2.459 ( P <0.005); the frequencies of the m1m2 and m2m2 genotypes were significantly higher than those in their matched controls with odds ratios of 2.99 ( P <0.01) and 6.22 ( P <0 025), respectively. In contrast, no differences were observed when the frequencies of individuals with the CYP1A1 MspI alleles or genotypes among patients with late onset PD and their matched controls were compared(all P >0 05). (2) Of the 46 patients with early onset PD, the frequency of the G allele was significantly higher than that in their matched controls, with an odds ratio of 2.432 ( P <0.005); odds ratio was 6.167 in homozygotes for G allele ( P <0.01). Similarly, the frequency of the G allele was also significantly higher in late onset PD patients than in their matched controls, with only an odds ratio of 1.649 ( P <0.01). In contrast, no differences were observed when the frequencies of individuals with the CYP1A1 exon 7 A4889G polymorphic locus genotypes among patients with late onset PD and their matched controls were compared ( P >0.05). (3) No differences were observed when the frequencies of individuals with the CYP2E1 RsaI and PstI alleles or genotypes among patients with early and late onset PD and their matched controls were compared (all P >0.05). Conclusions Our data suggest that CYP1A1 gene polymorphisms might be a genetic susceptible factor for early onset PD, and CYP2E1 RsaI and PstI polymorphisms might not be a genetic susceptible factor for both early and late onset PD in the Chinese population tested.更多还原