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

Autor: Ding H; Center for Neurologic Diseases, Harvard Medical School and Brigham & Women's Hospital, Cambridge, Massachusetts, USA., 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, Sudarsky LR, Growdon JH, Ivinson AJ, Hyman BT, Scherzer CR
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2011 Oct; Vol. 26 (12), pp. 2283-6. Date of Electronic Publication: 2011 Sep 23.
DOI: 10.1002/mds.23934
Abstrakt: 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.
(Copyright © 2011 Movement Disorder Society.)
Databáze: MEDLINE
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