title: Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
abstract: 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.
authors.affiliation: Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA. lc654@columbia.edu
authors.forename: Lorraine N
authors.initials: LN
authors.lastname: Clark
authors.forename: Angelique
authors.initials: A
authors.lastname: Nicolai
authors.forename: Shehla
authors.initials: S
authors.lastname: Afridi
authors.forename: Juliette
authors.initials: J
authors.lastname: Harris
authors.forename: Helen
authors.initials: H
authors.lastname: Mejia-Santana
authors.forename: Lisa
authors.initials: L
authors.lastname: Strug
authors.forename: Lucien J
authors.initials: LJ
authors.lastname: Cote
authors.forename: Elan D
authors.initials: ED
authors.lastname: Louis
authors.forename: Howard
authors.initials: H
authors.lastname: Andrews
authors.forename: Cheryl
authors.initials: C
authors.lastname: Waters
authors.forename: Blair
authors.initials: B
authors.lastname: Ford
authors.forename: Steven
authors.initials: S
authors.lastname: Frucht
authors.forename: Stanley
authors.initials: S
authors.lastname: Fahn
authors.forename: Richard
authors.initials: R
authors.lastname: Mayeux
authors.forename: Ruth
authors.initials: R
authors.lastname: Ottman
authors.forename: K
authors.initials: K
authors.lastname: Marder
mesh_terms: 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
chemical_list: D001224:Aspartic Acid; D012694:Serine; D005962:Glucosylceramidase