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A. B. Singleton, M. Farrer, J. Johnson, A. Singleton, S. Hague, J. Kachergus, M. Hulihan, T. Peuralinna, A. Dutra, R. Nussbaum, S. Lincoln, A. Crawley, M. Hanson, D. Maraganore, C. Adler, M. R. Cookson, M. Muenter, M. Baptista, D. Miller, J. Blancato, J. Hardy and K. GwinnHardy, “Alpha-Synuclein Locus Triplication Causes Parkinson’s Disease,” Science, Vol. 302, No. 5646, 2003, pp. 841. http://dx.doi.org/10.1126/science.1090278

has been cited by the following article:

• TITLE: Polymorphisms in the SNCA Gene: Association with the Risk of Development of the Sporadic Form of Parkinson’s Disease and the Level of SNCA Gene Expression in Peripheral Blood of Patients from Russia

  AUTHORS: Anelya Kh. Alieva, Maria I. Shadrina, Elena V. Filatova, Vera V. Ustinova, Ekaterina Yu Fedotova, Alexey V. Karabanov, Sergey N. Illarioshkin, Petr A. Slominsky

  KEYWORDS: Parkinson’s Disease; Expression Analysis; SNCA; SNP

  JOURNAL NAME: Neuroscience and Medicine, Vol.4 No.4, December 2, 2013

  ABSTRACT: Parkinson’s disease (PD) is one of the most common human neurodegenerative disorders caused by the loss of dopaminergic neurons in the brain. The α-synuclein (SNCA) gene is one of the most studied genes involved in the pathogenesis of PD. In our study, we conducted a genetic analysis of promoter and intron single-nucleotide polymorphisms (SNPs) in the SNCA gene. We also analyzed the association of genotypes of these SNPs with expression levels of SNCA mRNA. One of four SNPs in the SNCA gene, and the rs2736990 polymorphism, associates with the risk of the sporadic form of PD in Russian population. The risk of PD was increased almost twofold in carriers of allele C (odds ratios = 1.9, 95% confidence interval: 1.2-2.91, p = 0.003). However, no association was found between any of the genotypes of SNPs tested (rs2583988, rs2619363, rs2619364 and rs2736990) and alterations in SNCA levels. Our findings support the hypothesis that the rs2736990 polymorphism is associated with PD. SNPs rs2583988, rs2619363 and rs2619364 in the promoter region of the SNCA gene themselves do not significantly influence the expression of SNCA. Most likely, SNCA gene expression is a very complex process that is affected by different genetic and epigenetic factors.