α-Synuclein promoter RsaI T-to-C polymorphism and the risk of Parkinson's disease

C. K. Wang, C. M. Chen, C. Y. Chang, K. H. Chang, I. C. Chen, M. L. Li, G. J. Lee-Chen, Y. R. Wu

研究成果: 雜誌貢獻文章

13 引文 斯高帕斯(Scopus)

摘要

Increased α-synuclein expression may be involved in the pathogenesis of Parkinson's disease (PD). We investigated the association of Rep1 microsatellite and RsaI T-to-C substitution in the α-synuclein promoter region with the risk of PD by a case-control study. The RsaI C/C genotype and C allele were found less frequently in PD patients than in controls. A reduced risk of the Rep1-RsaI 0-C haplotype (OR = 0.57, 95% CI = 0.36-0.90) with PD was evident. The quantitative real-time PCR study showed that the α-synuclein mRNA expression was increased (although not significantly) in PD patients with RsaI T/T genotype or Rep1-RsaI 0-T haplotype as compared to T/C genotype or 0-C haplotype. Reporter constructs containing the RsaI C allele drove significantly lower transcriptional activity compared with the RsaI T allele in both IMR32 and 293 cells. The findings suggest that the RsaI T-to-C substitution may have a functional relevance to the susceptibility to PD.

原文英語
頁(從 - 到)1425-1433
頁數9
期刊Journal of Neural Transmission
113
發行號10
DOIs
出版狀態已發佈 - 2006 十月

    指紋

ASJC Scopus subject areas

  • Neuroscience(all)

引用此

Wang, C. K., Chen, C. M., Chang, C. Y., Chang, K. H., Chen, I. C., Li, M. L., Lee-Chen, G. J., & Wu, Y. R. (2006). α-Synuclein promoter RsaI T-to-C polymorphism and the risk of Parkinson's disease. Journal of Neural Transmission, 113(10), 1425-1433. https://doi.org/10.1007/s00702-006-0435-4