rs7684318
This is a intron variant variant in the SNCA gene.
▶Research that mentions this SNP (2)
▶A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysisAssociationN=3,923Poduslo SE et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A genome-wide survival meta-analysis of 3,923 Parkinson's disease patients identified three genome-wide significant loci associated with progression to Parkinson's disease dementia: APOE rs429358 (HR=2.41, P=2.32×10−15), LRP1B rs80306347 (HR=3.23, P=7.07×10−9), and BBS9 rs78294974 (HR=3.90, P=3.59×10−8). The study reveals APOE ε4 and LRP1B as major risk factors and suggests the amyloid pathway's involvement in dementia development.
▶Calbindin 1, fibroblast growth factor 20, and α-synuclein in sporadic Parkinson’s diseaseAssociationN=3,341Ikuko Mizuta et al.(2008)· Human Genetics
Case-control association study of 302 SNPs in 137 candidate genes for sporadic Parkinson's disease in Japanese populations. The strongest association was rs1805874 in CALB1 (P = 7.1 × 10−5, OR = 1.34, recessive model) in combined analysis of 1,403 cases and 1,938 controls across two sample sets. SNCA rs7684318 showed prominent association (P = 5.1 × 10−14), and FGF20 was associated synergistically with SNCA.
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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