Funding agencies: The study was funded and sponsored by institutional funding from Helmholtz Zentrum München, Munich, Germany. Recruitment of case and control cohorts was supported by institutional (Helmholtz Zentrum München, Munich, Germany) and government funding from the German Bundesministerium für Bildung und Forschung (03.2007-02.2011 FKZ 01ET0713) and the Hungarian National Innovation Office (TAMOP-4-2-1/B-03/1/KMR-2010-001). Gregor Kuhlenbäumer is a member of the DFG-funded Cluster of Excellence “Inflammation at Interfaces.”
The role of SCARB2 as susceptibility factor in Parkinson's disease
Article first published online: 13 FEB 2013
Copyright © 2013 Movement Disorder Society
Volume 28, Issue 4, pages 538–540, April 2013
How to Cite
Hopfner, F., Schulte, E. C., Mollenhauer, B., Bereznai, B., Knauf, F., Lichtner, P., Zimprich, A., Haubenberger, D., Pirker, W., Brücke, T., Peters, A., Gieger, C., Kuhlenbäumer, G., Trenkwalder, C. and Winkelmann, J. (2013), The role of SCARB2 as susceptibility factor in Parkinson's disease. Mov. Disord., 28: 538–540. doi: 10.1002/mds.25349
Relevant conflicts of interest/financial disclosures: Nothing to report.Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 8 APR 2013
- Article first published online: 13 FEB 2013
- Manuscript Accepted: 3 DEC 2012
- Manuscript Revised: 6 NOV 2012
- Manuscript Received: 23 MAY 2012
- Parkinson's disease
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.
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.
We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P=.02). © 2013 Movement Disorder Society