title: Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.
abstract: Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study.
authors.affiliation: Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA. samer@bu.edu
authors.forename: Samer
authors.initials: S
authors.lastname: Karamohamed
authors.forename: L I
authors.initials: LI
authors.lastname: Golbe
authors.forename: M H
authors.initials: MH
authors.lastname: Mark
authors.forename: A M
authors.initials: AM
authors.lastname: Lazzarini
authors.forename: O
authors.initials: O
authors.lastname: Suchowersky
authors.forename: N
authors.initials: N
authors.lastname: Labelle
authors.forename: Mark
authors.initials: M
authors.lastname: Guttman
authors.forename: L J
authors.initials: LJ
authors.lastname: Currie
authors.forename: G F
authors.initials: GF
authors.lastname: Wooten
authors.forename: M
authors.initials: M
authors.lastname: Stacy
authors.forename: M
authors.initials: M
authors.lastname: Saint-Hilaire
authors.forename: R G
authors.initials: RG
authors.lastname: Feldman
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.forename: C M
authors.initials: CM
authors.lastname: Shoemaker
authors.forename: J B
authors.initials: JB
authors.lastname: Wilk
authors.forename: A L
authors.initials: AL
authors.lastname: DeStefano
authors.forename: J C
authors.initials: JC
authors.lastname: Latourelle
authors.forename: G
authors.initials: G
authors.lastname: Xu
authors.forename: R
authors.initials: R
authors.lastname: Watts
authors.forename: J
authors.initials: J
authors.lastname: Growdon
authors.forename: M
authors.initials: M
authors.lastname: Lew
authors.forename: C
authors.initials: C
authors.lastname: Waters
authors.forename: P
authors.initials: P
authors.lastname: Vieregge
authors.forename: P P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: B A
authors.initials: BA
authors.lastname: Racette
authors.forename: J S
authors.initials: JS
authors.lastname: Perlmutter
authors.forename: A
authors.initials: A
authors.lastname: Parsian
authors.forename: Carlos
authors.initials: C
authors.lastname: Singer
authors.forename: E
authors.initials: E
authors.lastname: Montgomery
authors.forename: K
authors.initials: K
authors.lastname: Baker
authors.forename: J F
authors.initials: JF
authors.lastname: Gusella
authors.forename: A
authors.initials: A
authors.lastname: Herbert
authors.forename: R H
authors.initials: RH
authors.lastname: Myers
mesh_terms: D000368:Aged; D004268:DNA-Binding Proteins / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008875:Middle Aged; D057126:Nuclear Receptor Subfamily 4, Group A, Member 2; D015513:Oncogene Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D000071617:Protein Deglycase DJ-1; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; C539882:NR4A2 protein, human; D057126:Nuclear Receptor Subfamily 4, Group A, Member 2; D015513:Oncogene Proteins; D014157:Transcription Factors; D051844:alpha-Synuclein; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1