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The role of SCARB2 as susceptibility factor in P arkinson's disease
Author(s) -
Hopfner Franziska,
Schulte Eva C.,
Mollenhauer Brit,
Bereznai Benjamin,
Knauf Franziska,
Lichtner Peter,
Zimprich Alexander,
Haubenberger Dietrich,
Pirker Walter,
Brücke Thomas,
Peters Annette,
Gieger Christian,
Kuhlenbäumer Gregor,
Trenkwalder Claudia,
Winkelmann Juliane
Publication year - 2013
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.25349
Subject(s) - snp , single nucleotide polymorphism , genetic association , exon , glucocerebrosidase , genetics , gene , population , biology , medicine , genotype , environmental health
Background Genetic variation in the glucocerebrosidase ( GBA ) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2 , and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined. Methods We studied the role of exonic variants in SCARB2 and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all SCARB2 exons by high‐resolution melting curve analysis was performed in 376 German PD patients. The SNP rs6812193 was analyzed in 984 PD patients and 1014 general population controls. Results We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P =.02). © 2013 Movement Disorder Society
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