Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei 112, Taiwan.
Chang Gung Memorial Hospital Linkou Medical Center and College of Medicine, Department of Neurology, Chang Gung University, Taoyuan 333, Taiwan.
Genes (Basel). 2021 Apr 29;12(5):674. doi: 10.3390/genes12050674.
Parkinson's disease (PD) is a neurodegenerative disease with the pathological hallmark of Lewy bodies and Lewy neurites composed of α-synuclein. The SNP rs591323 is one of the risk loci located near the gene that has been implicated in PD. The variation of in the 3' untranslated region was shown to increase α-synuclein expression. We examined the association of rs591323 with the risk of PD in a Taiwanese population and conducted a meta-analysis, including our study and two other studies from China, to further confirm the role of this SNP in Taiwanese/Chinese populations. A total of 586 patients with PD and 586 health controls (HCs) were included in our study. We found that the minor allele (A) and the AA + GA genotype under the dominant model are significantly less frequent in PD than in controls. The meta-analysis consisted of 1950 patients with PD and 2073 healthy controls from three studies. There was significant association between rs591323 and the risk of PD in the additive (Z = -3.96; < 0.0001) and the dominant models (Z = -4.01; < 0.0001). Our study results and the meta-analysis support the possible protective role of the rs591323 A allele in PD in Taiwanese/Chinese populations.
帕金森病(PD)是一种神经退行性疾病,其病理学特征是由α-突触核蛋白组成的路易体和路易神经突。SNP rs591323 是位于 基因附近的风险位点之一,该基因与 PD 有关。3'非翻译区中 的变异被证明会增加α-突触核蛋白的表达。我们在台湾人群中研究了 rs591323 与 PD 风险的关联,并进行了荟萃分析,包括我们的研究和来自中国的另外两项研究,以进一步证实该 SNP 在台湾/中国人群中的作用。我们的研究共纳入了 586 例 PD 患者和 586 例健康对照(HC)。我们发现,与对照组相比,PD 患者中次要等位基因(A)和显性模型下的 AA+GA 基因型明显较少。荟萃分析包括来自三项研究的 1950 例 PD 患者和 2073 例健康对照。rs591323 与 PD 风险之间存在显著关联,无论是在加性模型(Z = -3.96; < 0.0001)还是显性模型(Z = -4.01; < 0.0001)中。我们的研究结果和荟萃分析支持 rs591323 A 等位基因在台湾/中国人群中可能对 PD 具有保护作用。