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

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1425-1433
Number of pages9
JournalJournal of Neural Transmission
Volume113
Issue number10
DOIs
Publication statusPublished - 2006 Oct

Keywords

  • α-synuclein
  • Parkinson's disease
  • Polymorphism and disease association
  • Rep1 dinucleotide repeat
  • RsaI T-to-C substitution

ASJC Scopus subject areas

  • Neuroscience(all)

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