Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
Mutations in the beta-glucocerebrosidase gene cause Gaucher's disease, one of the most common lysosomal lipid storage diseases in the Ashkenazi Jewish population. The occurrence of parkinsonism in patients with Type 1 Gaucher's disease has been noted previously. In this pilot study, we evaluated a possible association between Parkinson's disease (PD) and the beta-glucocerebrosidase gene N370S allele (nt.1226 A>G) in 160 Parkinson's disease patients and 92 controls of Jewish ethnicity. We observed a higher frequency of the N370S genotype in PD cases (NS and SS, 10.7%) compared to controls (NS and SS 4.3%); however, the difference was not statistically significant (chi(2) = 3.4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.
Clark
Lorraine N
LN
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu
Nicolai
Angelique
A
Afridi
Shehla
S
Harris
Juliette
J
Mejia-Santana
Helen
H
Strug
Lisa
L
Cote
Lucien J
LJ
Louis
Elan D
ED
Andrews
Howard
H
Waters
Cheryl
C
Ford
Blair
B
Frucht
Steven
S
Fahn
Stanley
S
Mayeux
Richard
R
Ottman
Ruth
R
Marder
K
K
D000368:Aged; D000483:Alleles; D001224:Aspartic Acid / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007585:Jews; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D010865:Pilot Projects; D017354:Point Mutation; D012694:Serine / Q000235:genetics
D001224:Aspartic Acid; D012694:Serine; D005962:Glucosylceramidase