title: Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.
abstract: 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.
authors: Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA. ross.owen@mayo.edu
authors: Owen A
authors: OA
authors: Ross
authors: Michael G
authors: MG
authors: Heckman
authors: Alexandra I
authors: AI
authors: Soto
authors: Nancy N
authors: NN
authors: Diehl
authors: Kristoffer
authors: K
authors: Haugarvoll
authors: Carles
authors: C
authors: Vilariño-Güell
authors: Jan O
authors: JO
authors: Aasly
authors: Sigrid
authors: S
authors: Sando
authors: J Mark
authors: JM
authors: Gibson
authors: Timothy
authors: T
authors: Lynch
authors: Anna
authors: A
authors: Krygowska-Wajs
authors: Grzegorz
authors: G
authors: Opala
authors: Maria
authors: M
authors: Barcikowska
authors: Krzysztof
authors: K
authors: Czyzewski
authors: Ryan J
authors: RJ
authors: Uitti
authors: Zbigniew K
authors: ZK
authors: Wszolek
authors: Matthew J
authors: MJ
authors: Farrer
mesh_terms: 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
chemical_list: D004299:Dopamine beta-Hydroxylase