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

doi:10.1002/mds.25349

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

Chair of Neurogenetics (2015 — 2023)

Research output: Contribution to journal › Article › peer-review

42 Scopus citations

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).

Original language	English
Pages (from-to)	538-540
Number of pages	3
Journal	Movement Disorders
Volume	28
Issue number	4
DOIs	https://doi.org/10.1002/mds.25349
State	Published - Apr 2013

Keywords

Genetics
Parkinson's disease

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10.1002/mds.25349

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title = "The role of SCARB2 as susceptibility factor in Parkinson's disease",

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).",

keywords = "Genetics, Parkinson's disease",

author = "Franziska Hopfner and Schulte, {Eva C.} and Brit Mollenhauer and Benjamin Bereznai and Franziska Knauf and Peter Lichtner and Alexander Zimprich and Dietrich Haubenberger and Walter Pirker and Thomas Br{\"u}cke and Annette Peters and Christian Gieger and Gregor Kuhlenb{\"a}umer and Claudia Trenkwalder and Juliane Winkelmann",

year = "2013",

month = apr,

doi = "10.1002/mds.25349",

language = "English",

volume = "28",

pages = "538--540",

journal = "Movement Disorders",

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T1 - The role of SCARB2 as susceptibility factor in Parkinson's disease

AU - Hopfner, Franziska

AU - Schulte, Eva C.

AU - Mollenhauer, Brit

AU - Bereznai, Benjamin

AU - Knauf, Franziska

AU - Lichtner, Peter

AU - Zimprich, Alexander

AU - Haubenberger, Dietrich

AU - Pirker, Walter

AU - Brücke, Thomas

AU - Peters, Annette

AU - Gieger, Christian

AU - Kuhlenbäumer, Gregor

AU - Trenkwalder, Claudia

AU - Winkelmann, Juliane

PY - 2013/4

Y1 - 2013/4

N2 - 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).

AB - 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).

KW - Genetics

KW - Parkinson's disease

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DO - 10.1002/mds.25349

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SN - 0885-3185

VL - 28

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JO - Movement Disorders

JF - Movement Disorders

IS - 4

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

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