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.
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.
Karamohamed
Samer
S
Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA. samer@bu.edu
Golbe
L I
LI
Mark
M H
MH
Lazzarini
A M
AM
Suchowersky
O
O
Labelle
N
N
Guttman
Mark
M
Currie
L J
LJ
Wooten
G F
GF
Stacy
M
M
Saint-Hilaire
M
M
Feldman
R G
RG
Liu
J
J
Shoemaker
C M
CM
Wilk
J B
JB
DeStefano
A L
AL
Latourelle
J C
JC
Xu
G
G
Watts
R
R
Growdon
J
J
Lew
M
M
Waters
C
C
Vieregge
P
P
Pramstaller
P P
PP
Klein
C
C
Racette
B A
BA
Perlmutter
J S
JS
Parsian
A
A
Singer
Carlos
C
Montgomery
E
E
Baker
K
K
Gusella
J F
JF
Herbert
A
A
Myers
R H
RH
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*
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