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 journalArticle

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

Fingerprint

Synucleins
Parkinson disease
polymorphism
Polymorphism
Parkinson Disease
promoter regions
genetic polymorphism
Haplotypes
haplotypes
allele
genotype
Alleles
Genotype
alleles
substitution
Substitution reactions
substitutes
microsatellites
pathogenesis
Time and motion study

Keywords

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

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Wang, C. K., Chen, C. M., Chang, C. Y., Chang, K. H., Chen, I. C., Li, M. L., ... 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

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

In: Journal of Neural Transmission, Vol. 113, No. 10, 10.2006, p. 1425-1433.

Research output: Contribution to journalArticle

Wang, CK, Chen, CM, Chang, CY, Chang, KH, Chen, IC, Li, ML, Lee-Chen, GJ & Wu, YR 2006, 'α-Synuclein promoter RsaI T-to-C polymorphism and the risk of Parkinson's disease', Journal of Neural Transmission, vol. 113, no. 10, pp. 1425-1433. https://doi.org/10.1007/s00702-006-0435-4
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. / α-Synuclein promoter RsaI T-to-C polymorphism and the risk of Parkinson's disease. In: Journal of Neural Transmission. 2006 ; Vol. 113, No. 10. pp. 1425-1433.
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