Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
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.
Department of Enzymology and Cellular Function, Institute of Child Health, Aghia Sophidara Children's Hospital, Athens, Greece.
Helen
H
Michelakakis
Georgia
G
Xiromerisiou
Efthimios
E
Dardiotis
Maria
M
Bozi
Demetrios
D
Vassilatis
Persa-Maria
PM
Kountra
Gianna
G
Patramani
Marina
M
Moraitou
Dimitra
D
Papadimitriou
Eleftherios
E
Stamboulis
Leonidas
L
Stefanis
Elias
E
Zintzaras
Georgios M
GM
Hadjigeorgiou
D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006115:Greece; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D016017:Odds Ratio; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D051116:Receptors, Scavenger / Q000235:genetics*; D012189:Retrospective Studies
D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human