Association of SNCA with Parkinson: replication in the Harvard NeuroDiscovery Center Biomarker Study.

MOVEMENT DISORDERS(2011)

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摘要
Background: Mutations in the alpha-synuclein gene (SNCA) cause autosomal dominant forms of Parkinson's disease, but the substantial risk conferred by this locus to the common sporadic disease has only recently emerged from genome-wide association studies. Methods: We genotyped a prioritized noncoding variant in SNCA intron 4 in 344 patients with Parkinson's disease and 275 controls from the longitudinal Harvard NeuroDiscovery Center Biomarker Study. Results: The common minor allele of rs2736990 was associated with elevated disease susceptibility (odds ratio, 1.40; P = .0032). Conclusions: This result increases confidence in the notion that in many clinically well-characterized patients, genetic variation in SNCA contributes to "sporadic" disease. (C) 2011 Movement Disorder Society
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关键词
Parkinson's disease,alpha-synuclein,GATA transcription factors,biomarker,genome-wide association study
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