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

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Summary.

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.

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Authors and Affiliations

  1. Department of Life Science, National Taiwan Normal University, Taipei, Taiwan

    C. K. Wang, M. L. Li & G.-J. Lee-Chen

  2. Jen-Teh Junior College of Medicine, Nursing and Management, Miaoli, Taiwan

    C. K. Wang

  3. Department of Neurology, Chang Gung Memorial Hospital, Taipei, Taiwan

    C. M. Chen, K. H. Chang, I. C. Chen & Y. R. Wu

  4. National Hsin Chuang Senior High School, Taipei, Taiwan

    C. Y. Chang

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  1. C. K. Wang
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  2. C. M. Chen
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  3. C. Y. Chang
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  4. K. H. Chang
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  5. I. C. Chen
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  6. M. L. Li
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  7. G.-J. Lee-Chen
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The first and second authors participated equally to the study

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Wang, C., Chen, C., Chang, C. et al. α-Synuclein promoter RsaI T-to-C polymorphism and the risk of Parkinson’s disease. J Neural Transm 113, 1425–1433 (2006). https://doi.org/10.1007/s00702-006-0435-4

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  • DOI: https://doi.org/10.1007/s00702-006-0435-4

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