Work

The role of SCARB2 as susceptibility factor in P arkinson's disease

Year: 2013

Type: article

Abstract: 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).

Source: Movement Disorders

DOI: 10.1002/mds.25349

Authors: 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

Institutions: TUM Klinikum, Helmholtz Munich, Christian-Albrechts-Universität zu Kiel, Institut für Humangenetik, Technical University of Munich, Paracelsus Elena Klinik Kassel, University of Göttingen, Semmelweis University, Medical University of Vienna, Wilhelminen Hospital

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W1535104085

FWCI: 3.784

Cites: 11

Cited by: 47

Related to: 10