rs3857059
This variant is located in the SNCA gene.
▶Research that mentions this SNP (1)
▶SNCA Variant Associated With Parkinson Disease and Plasma α-Synuclein LevelAssociationN=4,068Ignacio F. Mata et al.(2010)· Archives of Neurology
This case-control association study of 1,956 Parkinson's disease (PD) patients and 2,112 controls identified rs356219 (OR=1.41, 95% CI 1.28-1.55, p=1.6×10⁻¹²) as a major genetic susceptibility variant for PD located ~9 kb downstream of SNCA. The risk allele was associated with increased plasma α-synuclein levels in PD cases (p=0.005), suggesting the functional variant tagged by rs356219 may upregulate SNCA expression in a dose-dependent manner, independent of the previously known REP1 promoter repeat polymorphism.
About SNCA
Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]
View all SNCA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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