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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-10

AUTHORS

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

ABSTRACT

Increased alpha-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 alpha-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 alpha-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. More... »

PAGES

1425-1433

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00702-006-0435-4

DOI

http://dx.doi.org/10.1007/s00702-006-0435-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1025973521

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16604306


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