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Hopfner, F. ; Schulte, E.C. ; Mollenhauer, B.* ; Bereznai, B.* ; Knauf, F. ; Lichtner, P. ; * ; Haubenberger, D.* ; Pirker, W.* ; Brücke, T.* ; Peters, A. ; Gieger, C. ; Kuhlenbäumer, G.* ; Trenkwalder, C.* ; Winkelmann, J.

The role of SCARB2 as susceptibility factor in Parkinson's disease.

Mov. Disord. 28, 538-540 (2013)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Background Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined. Methods We studied the role of exonic variants in SCARB2 and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all SCARB2 exons by high-resolution melting curve analysis was performed in 376 German PD patients. The SNP rs6812193 was analyzed in 984 PD patients and 1014 general population controls. Results We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P=.02).
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genetics ; Parkinson's Disease; Alpha-synuclein ; Glucocerebrosidase ; Association ; Mutation
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Journal Movement Disorders
Quellenangaben Volume: 28, Issue: 4, Pages: 538-540 Article Number: , Supplement: ,
Publisher Wiley
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology II (EPI2)
Institute of Genetic Epidemiology (IGE)