Analysis of the glucocerebrosidase gene in Parkinson's disease.
Parkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene. We investigated the GBA gene for mutations in 88 PD cases and 122 normal controls and detected the presence of heterozygous GBA mutations in 5 PD cases and in 1 control. Sequencing of the entire open reading frame of the GBA gene in a subset of 25 cases with early-onset PD (<50 years of age) uncovered no additional mutations. Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048).
Sato
Christine
C
Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Morgan
Angharad
A
Lang
Anthony E
AE
Salehi-Rad
Shabnam
S
Kawarai
Toshitaka
T
Meng
Yan
Y
Ray
Peter N
PN
Farrer
Lindsay A
LA
St George-Hyslop
Peter
P
Rogaeva
Ekaterina
E
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics
D017931:DNA Primers; D005962:Glucosylceramidase