Ross Owen A, Heckman Michael G, Soto Alexandra I, Diehl Nancy N, Haugarvoll Kristoffer, Vilariño-Güell Carles, Aasly Jan O, Sando Sigrid, Gibson J Mark, Lynch Timothy, Krygowska-Wajs Anna, Opala Grzegorz, Barcikowska Maria, Czyzewski Krzysztof, Uitti Ryan J, Wszolek Zbigniew K, Farrer Matthew J
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA.
Parkinsonism Relat Disord. 2008 Nov;14(7):544-7. doi: 10.1016/j.parkreldis.2008.07.002. Epub 2008 Aug 22.
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.
据报道，多巴胺β-羟化酶基因（DBH -1021C>T；rs1611115）启动子区域的单核苷酸多态性可调节血浆酶活性水平。该变异体也是两项关于帕金森病的大型关联研究的重点，但结果相互矛盾。我们在四个白种人患者对照系列（n = 2696）中研究了这种关联。在挪威系列中观察到适度的保护关联（OR = 0.81，p = 0.03；n = 1676），然而，在波兰系列中效应方向相反（OR = 2.01，p = 0.01；n = 224）。在美国和爱尔兰系列中，或综合所有四个系列时，未观察到DBH -1021C>T与疾病易感性的关联（OR = 0.91，p = 0.16，n = 2696）。在综合系列中，我们观察到DBH -1021C>T与发病年龄（AAO）之间存在适度关联（p = 0.01）。综上所述，这些发现表明DBH -1021C>T在帕金森病的发病机制中不发挥主要作用。
