Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson’s disease
Abstract
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 (OR(G) ) 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.
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Since sphingolipid-containing membranes are cleared by microglia, it is possible that this region has greater need for sphingolipid clearance and is thus more susceptible to sphingolipidosis-related mutations, though this hypothesis would need much more study.
“Since sphingolipid-containing membranes are cleared by microglia, it is possible that this region has greater need for sphingolipid clearance and is thus more susceptible to sphingolipidosis-related mutations, though this hypothesis would need much more study.110”
From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [110]
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Vogiatzi, T., Xilouri, M., Vekrellis, K., & Stefanis, L. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m801992200 · Cited by 683 · see citing works
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Lane-Donovan, C., Paredes, M., & Kao, A. W. (2025) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2025.102854 · Cited by 3 · see citing works
- Authors
- Michelakakis, H., Xiromerisiou, G., Dardiotis, E., Bozi, M., Vassilatis, D., Kountra, P., Patramani, G., Moraitou, M., Papadimitriou, D., Stamboulis, E., Stefanis, L., Zintzaras, E., & Hadjigeorgiou, G. M.
- Affiliations
- Institute of Child Health (GR)
- Center for Research and Technology Thessaly (GR)
- University of Thessaly (GR)
- National and Kapodistrian University of Athens (GR)
- Biomedical Research Foundation of the Academy of Athens (GR)
- Tufts University (US)
- Corresponding author
- Hadjigeorgiou, Georgios M.
- ORCID
- Venue
- Movement Disorders
- Publisher
- Wiley
- Published
- 2012-01-05
- Volume
- 27
- Issue
- 3
- Pages
- 400-405
- ISSN
- 0885-3185 (ISSN-L)
- 1531-8257
- OpenAlex
- W2020579700
- Cited by
- 64
- References
- 1
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 2 · 2023: 5 · 2022: 4 · 2021: 6 · 2020: 4 · 2019: 4 · 2018: 6 · 2017: 3 · 2016: 5 · 2015: 3 · 2014: 3 · 2013: 6 · 2012: 6
- FWCI
- 3.75
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Movement Disorders (publishedVersion)
- PubMed (publishedVersion)
- University of Thessaly Institutional Repository (University of Thessaly) (submittedVersion)
- Funders
- Max-Planck-Gesellschaft
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
- Keywords
- Parkinson's disease, SCARB2, glucocerebrosidase, Gaucher disease, genetic susceptibility, single nucleotide polymorphisms, haplotype association, Lewy bodies, candidate gene association
- MeSH terms
- Female, Gene Frequency, Genotype, Greece, Humans, Male, Parkinson Disease, Retrospective Studies, Chi-Square Distribution, Odds Ratio, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Receptors, Scavenger, Lysosomal Membrane Proteins, Genetic Association Studies
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