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Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
Author(s) -
Michelakakis Helen,
Xiromerisiou Georgia,
Dardiotis Efthimios,
Bozi Maria,
Vassilatis Demetrios,
Kountra PersaMaria,
Patramani Gianna,
Moraitou Marina,
Papadimitriou Dimitra,
Stamboulis Eleftherios,
Stefanis Leonidas,
Zintzaras Elias,
Hadjigeorgiou Georgios M.
Publication year - 2012
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.24886
Subject(s) - glucocerebrosidase , haplotype , odds ratio , parkinsonism , genetics , parkinson's disease , locus (genetics) , allele , genetic association , biology , candidate gene , gene , disease , medicine , single nucleotide polymorphism , genotype
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. © 2012 Movement Disorder Society