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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
The role of SCARB2 as susceptibility factor in Parkinson's disease.
Mov. Disord. 28, 538-540 (2013)
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).
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Genetics ; Parkinson's Disease; Alpha-synuclein ; Glucocerebrosidase ; Association ; Mutation
ISSN (print) / ISBN
0885-3185
e-ISSN
1531-8257
Zeitschrift
Movement Disorders
Quellenangaben
Band: 28,
Heft: 4,
Seiten: 538-540
Verlag
Wiley
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed