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.