The role of SCARB2 as susceptibility factor in Parkinson's disease

Franziska Hopfner, Eva C. Schulte, Brit Mollenhauer, Benjamin Bereznai, Franziska Knauf, Peter Lichtner, Alexander Zimprich, Dietrich Haubenberger, Walter Pirker, Thomas Brücke, Annette Peters, Christian Gieger, Gregor Kuhlenbäumer, Claudia Trenkwalder, Juliane Winkelmann

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


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).

Original languageEnglish
Pages (from-to)538-540
Number of pages3
JournalMovement Disorders
Issue number4
StatePublished - Apr 2013
Externally publishedYes


  • Genetics
  • Parkinson's disease


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