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

著者 Ding H , Sarokhan AK , Roderick SS , Bakshi R , Maher NE , Ashourian P , Kan CG , Chang S , Santarlasci A , Swords KE , Ravina BM , Hayes MT , Sohur US , Wills AM , Flaherty AW , Unni VK , Hung AY , Selkoe DJ , Schwarzschild MA , Schlossmacher MG , Sudars
Mov Disord.2011 Sep 23 ; ():.
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Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA.

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BACKGROUND: Mutations in the α-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. © 2011 Movement Disorder Society.
PMID: 21953863 [PubMed - as supplied by publisher]
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