Dopamine β-hydroxylase -1021C>T association and Parkinson's disease

Owen A. Ross, Michael G. Heckman, Alexandra I. Soto, Nancy N. Diehl, Kristoffer Haugarvoll, Carles Vilariño-Güell, Jan O. Aasly, Sigrid Sando, J. Mark Gibson, Timothy Lynch, Anna Krygowska-Wajs, Grzegorz Opala, Maria Barcikowska, Krzysztof Czyzewski, Ryan J. Uitti, Zbigniew K. Wszolek, Matthew J. Farrer

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)544-547
Number of pages4
JournalParkinsonism and Related Disorders
Issue number7
StatePublished - Nov 2008


  • DBH
  • Genetics
  • PD
  • Promoter SNP

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology


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