Dr. Michelakakis and Dr. Xiromerisiou contributed equally to this work.
Article first published online: 5 JAN 2012
Copyright © 2012 Movement Disorder Society
Volume 27, Issue 3, pages 400–405, March 2012
How to Cite
Michelakakis, H., Xiromerisiou, G., Dardiotis, E., Bozi, M., Vassilatis, D., Kountra, P.-M., Patramani, G., Moraitou, M., Papadimitriou, D., Stamboulis, E., Stefanis, L., Zintzaras, E. and Hadjigeorgiou, G. M. (2012), Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease. Mov. Disord., 27: 400–405. doi: 10.1002/mds.24886
Funding agencies: Research Committee of University of Thessaly (Code: 2845), Institute of Biomedical Research & Technology, CERETETH (Code: 01-04-207), PENED 2003 grant from The Hellenic Secretariat of Research and Technology to LS and DV.
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: 12 MAR 2012
- Article first published online: 5 JAN 2012
- Manuscript Accepted: 23 NOV 2011
- Manuscript Revised: 21 NOV 2011
- Manuscript Received: 27 JUN 2010
- Parkinson's disease;
- tag SNPs
Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphate–independent receptor for glucocerebrosidase (β-GCase); a deficiency in this protein causes Gaucher disease. Several studies have shown a link between mutations in the β-GCase gene and diseases characterized clinically by Parkinsonism and by the presence of Lewy body–related pathology. We hypothesized that genetic variants in the SCARB2 gene could be risk factors for Parkinson's disease (PD). A candidate-gene study of 347 Greek patients with sporadic PD and 329 healthy controls was conducted to investigate the association between 5 polymorphisms in the SCARB2 gene (rs6824953, rs6825004, rs4241591, rs9991821, and rs17234715) and the development of PD. The single-locus analysis for the 5 polymorphisms revealed an association only for the rs6825004 polymorphism: the generalized odds ratio (ORG) was 0.68 (95% confidence interval [CI], 0.51–0.90), and the OR for the allelic test was OR = 0.71 (95% CI, 0.56–0.90). Haplotype analysis showed an association for the GCGGT haplotype (P < .01). Our study supports a genetic contribution of the SCARB2 locus to PD; future studies in larger cohorts are necessary to verify this finding. © 2012 Movement Disorder Society