Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.
A single nucleotide polymorphism in the promoter region of the dopamine beta-hydroxylase gene (DBH -1021C>T; rs1611115) is reported to regulate plasma enzyme activity levels. This variant has also been the focus of two large association studies in Parkinson's disease yielding conflicting results. We examined this association in four Caucasian patient-control series (n=2696). A modest protective association was observed in the Norwegian series (OR=0.81, p=0.03; n=1676), however, the effect was in the opposite direction in the Polish series (OR=2.01, p=0.01; n=224). No association was observed for DBH -1021C>T with disease susceptibility in the US and Irish series, or combining all four series (OR=0.91, p=0.16, n=2696). We observed a modest association between DBH -1021C>T and AAO in the combined series (p=0.01). Taken together, these findings indicate that DBH -1021C>T does not play a major role in the pathogenesis of Parkinson's disease.
Ross
Owen A
OA
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA. ross.owen@mayo.edu
Heckman
Michael G
MG
Soto
Alexandra I
AI
Diehl
Nancy N
NN
Haugarvoll
Kristoffer
K
Vilariño-Güell
Carles
C
Aasly
Jan O
JO
Sando
Sigrid
S
Gibson
J Mark
JM
Lynch
Timothy
T
Krygowska-Wajs
Anna
A
Opala
Grzegorz
G
Barcikowska
Maria
M
Czyzewski
Krzysztof
K
Uitti
Ryan J
RJ
Wszolek
Zbigniew K
ZK
Farrer
Matthew J
MJ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D004299:Dopamine beta-Hydroxylase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044465:White People
D004299:Dopamine beta-Hydroxylase