Evidence of an Association Between the Scavenger Receptor Class B Member 2 Gene and Parkinson's Disease
Identifieur interne : 001126 ( Main/Exploration ); précédent : 001125; suivant : 001127Evidence of an Association Between the Scavenger Receptor Class B Member 2 Gene and Parkinson's Disease
Auteurs : Helen Michelakakis [Grèce] ; Georgia Xiromerisiou [Grèce] ; Efthimios Dardiotis [Grèce] ; Maria Bozi [Grèce] ; Demetrios Vassilatis [Grèce] ; Persa-Maria Kountra [Grèce] ; Gianna Patramani [Grèce] ; Marina Moraitou [Grèce] ; Dimitra Papadimitriou [Grèce] ; Eleftherios Stamboulis [Grèce] ; Leonidas Stefanis [Grèce] ; Elias Zintzaras [Grèce, États-Unis] ; Georgios M. Hadjigeorgiou [Grèce]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
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 (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.
Affiliations:
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<series><title level="j" type="main">Movement disorders</title>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Biological receptor</term>
<term>Haplotype</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du système nerveux</term>
<term>Récepteur biologique</term>
<term>Haplotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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<sub>G</sub>
) 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.</div>
</front>
</TEI>
<affiliations><list><country><li>Grèce</li>
<li>États-Unis</li>
</country>
<region><li>Massachusetts</li>
</region>
</list>
<tree><country name="Grèce"><noRegion><name sortKey="Michelakakis, Helen" sort="Michelakakis, Helen" uniqKey="Michelakakis H" first="Helen" last="Michelakakis">Helen Michelakakis</name>
</noRegion>
<name sortKey="Bozi, Maria" sort="Bozi, Maria" uniqKey="Bozi M" first="Maria" last="Bozi">Maria Bozi</name>
<name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name>
<name sortKey="Dardiotis, Efthimios" sort="Dardiotis, Efthimios" uniqKey="Dardiotis E" first="Efthimios" last="Dardiotis">Efthimios Dardiotis</name>
<name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
<name sortKey="Kountra, Persa Maria" sort="Kountra, Persa Maria" uniqKey="Kountra P" first="Persa-Maria" last="Kountra">Persa-Maria Kountra</name>
<name sortKey="Moraitou, Marina" sort="Moraitou, Marina" uniqKey="Moraitou M" first="Marina" last="Moraitou">Marina Moraitou</name>
<name sortKey="Papadimitriou, Dimitra" sort="Papadimitriou, Dimitra" uniqKey="Papadimitriou D" first="Dimitra" last="Papadimitriou">Dimitra Papadimitriou</name>
<name sortKey="Patramani, Gianna" sort="Patramani, Gianna" uniqKey="Patramani G" first="Gianna" last="Patramani">Gianna Patramani</name>
<name sortKey="Stamboulis, Eleftherios" sort="Stamboulis, Eleftherios" uniqKey="Stamboulis E" first="Eleftherios" last="Stamboulis">Eleftherios Stamboulis</name>
<name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name>
<name sortKey="Stefanis, Leonidas" sort="Stefanis, Leonidas" uniqKey="Stefanis L" first="Leonidas" last="Stefanis">Leonidas Stefanis</name>
<name sortKey="Vassilatis, Demetrios" sort="Vassilatis, Demetrios" uniqKey="Vassilatis D" first="Demetrios" last="Vassilatis">Demetrios Vassilatis</name>
<name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name>
<name sortKey="Zintzaras, Elias" sort="Zintzaras, Elias" uniqKey="Zintzaras E" first="Elias" last="Zintzaras">Elias Zintzaras</name>
</country>
<country name="États-Unis"><region name="Massachusetts"><name sortKey="Zintzaras, Elias" sort="Zintzaras, Elias" uniqKey="Zintzaras E" first="Elias" last="Zintzaras">Elias Zintzaras</name>
</region>
</country>
</tree>
</affiliations>
</record>
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