TY - JOUR
T1 - Dopamine β-hydroxylase -1021C>T association and Parkinson's disease
AU - Ross, Owen A.
AU - Heckman, Michael G.
AU - Soto, Alexandra I.
AU - Diehl, Nancy N.
AU - Haugarvoll, Kristoffer
AU - Vilariño-Güell, Carles
AU - Aasly, Jan O.
AU - Sando, Sigrid
AU - Gibson, J. Mark
AU - Lynch, Timothy
AU - Krygowska-Wajs, Anna
AU - Opala, Grzegorz
AU - Barcikowska, Maria
AU - Czyzewski, Krzysztof
AU - Uitti, Ryan J.
AU - Wszolek, Zbigniew K.
AU - Farrer, Matthew J.
N1 - Funding Information:
Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256). RJU, ZKW and MJF received support from a Pacific Alzheimer Research Foundation (PARF) grant C06-01. OAR is supported in part by an APDA research grant and Michael J. Fox award (RRIA). Mayo Clinic Florida has submitted samples from this study to the Coriell Repository at NIH. The authors would like to thank all those who have contributed to their research, particularly the patients and their families.
PY - 2008/11
Y1 - 2008/11
N2 - A single nucleotide polymorphism in the promoter region of the dopamine β-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.
AB - A single nucleotide polymorphism in the promoter region of the dopamine β-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.
KW - DBH
KW - Genetics
KW - PD
KW - Promoter SNP
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U2 - 10.1016/j.parkreldis.2008.07.002
DO - 10.1016/j.parkreldis.2008.07.002
M3 - Article
C2 - 18722802
AN - SCOPUS:53749104447
SN - 1353-8020
VL - 14
SP - 544
EP - 547
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
IS - 7
ER -