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 mannoseโ6โphosphateโindependent receptor for glucocerebrosidase (ฮฒโGCase); a deficiency in this protein causes Gaucher disease. Several studies have shown a link between mutations in the ฮฒโGCase gene and diseases characterized clinically by Parkinsonism and by the presence of Lewy bodyโrelated pathology. We hypothesized that genetic variants in the SCARB2 gene could be risk factors for Parkinson's disease (PD). A candidateโgene 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 singleโlocus 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], 0.51โ0.90), and the OR for the allelic test was OR = 0.71 (95% CI, 0.56โ0.90). 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. ยฉ 2012 Movement Disorder Society