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).
authors: Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. f.hopfner@neurologie.uni-kiel.de
authors: Franziska
authors: F
authors: Hopfner
authors: Eva C
authors: EC
authors: Schulte
authors: Brit
authors: B
authors: Mollenhauer
authors: Benjamin
authors: B
authors: Bereznai
authors: Franziska
authors: F
authors: Knauf
authors: Peter
authors: P
authors: Lichtner
authors: Alexander
authors: A
authors: Zimprich
authors: Dietrich
authors: D
authors: Haubenberger
authors: Walter
authors: W
authors: Pirker
authors: Thomas
authors: T
authors: Brücke
authors: Annette
authors: A
authors: Peters
authors: Christian
authors: C
authors: Gieger
authors: Gregor
authors: G
authors: Kuhlenbäumer
authors: Claudia
authors: C
authors: Trenkwalder
authors: Juliane
authors: J
authors: Winkelmann
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D051116:Receptors, Scavenger / Q000235:genetics*; D012307:Risk Factors
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human; D005962:Glucosylceramidase