Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
Identifieur interne : 000D96 ( Main/Exploration ); précédent : 000D95; suivant : 000D97Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
Auteurs : Helen Michelakakis [Grèce] ; Georgia Xiromerisiou ; Efthimios Dardiotis ; Maria Bozi ; Demetrios Vassilatis ; Persa-Maria Kountra ; Gianna Patramani ; Marina Moraitou ; Dimitra Papadimitriou ; Eleftherios Stamboulis ; Leonidas Stefanis ; Elias Zintzaras ; Georgios M. HadjigeorgiouSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
Descripteurs français
- Wicri :
- geographic : Grèce.
English descriptors
- KwdEn :
- Case-Control Studies, Chi-Square Distribution, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease (genetics), Genotype, Greece, Humans, Lysosome-Associated Membrane Glycoproteins (genetics), Male, Odds Ratio, Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Receptors, Scavenger (genetics), Retrospective Studies.
- MESH :
- chemical , genetics : Lysosome-Associated Membrane Glycoproteins, Receptors, Scavenger.
- geographic : Greece.
- genetics : Genetic Predisposition to Disease, Parkinson Disease, Polymorphism, Single Nucleotide.
- Case-Control Studies, Chi-Square Distribution, Female, Gene Frequency, Genetic Association Studies, Genotype, Humans, Male, Odds Ratio, Retrospective Studies.
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.
DOI: 10.1002/mds.24886
PubMed: 22223122
Affiliations:
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Hadjigeorgiou</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genotype</term><term>Greece</term><term>Humans</term><term>Lysosome-Associated Membrane Glycoproteins (genetics)</term><term>Male</term><term>Odds Ratio</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Receptors, Scavenger (genetics)</term><term>Retrospective Studies</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Lysosome-Associated Membrane Glycoproteins</term><term>Receptors, Scavenger</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Greece</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Odds Ratio</term><term>Retrospective Studies</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Grèce</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(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.</div></front></TEI><affiliations><list><country><li>Grèce</li></country></list><tree><noCountry><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="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="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></noCountry><country name="Grèce"><noRegion><name sortKey="Michelakakis, Helen" sort="Michelakakis, Helen" uniqKey="Michelakakis H" first="Helen" last="Michelakakis">Helen Michelakakis</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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