The role of SCARB2 as susceptibility factor in Parkinson's disease. Issue 4 (13th February 2013)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Movement disorders. Volume 28:Issue 4(2013)
• Page Start: 538
• Page End: 540
• Publication Date: 2013-02-13
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.25349
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="mds25349-sec-0001" sec-type="section"> <title>Background</title> <p>Genetic variation in the glucocerebrosidase (<italic>GBA</italic>) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the <italic>SCARB2</italic> gene. An association between the common SNP rs6812193, upstream of <italic>SCARB2</italic>, and PD has been reported previously. The role of exonic variants in the <italic>SCARB2</italic> gene in PD has not been examined.</p> </sec> <sec id="mds25349-sec-0002" sec-type="section"> <title>Methods</title> <p>We studied the role of exonic variants in <italic>SCARB2</italic> and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all <italic>SCARB2</italic> 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.</p> </sec> <sec id="mds25349-sec-0003" sec-type="section"> <title>Results</title> <p>We identified no novel exonic variants in <italic>SCARB2</italic> but confirmed the association between SNP rs6812193 and PD (OR, 0.86; <italic>P</italic>=.02). © 2013 <italic>Movement</italic> Disorder Society</p> </sec> </abstract>