Wei Yang, Yang Nannan, Xu Qian, Sun Qiying, Guo Jifeng, Li Kai, Liu Zhenhua, Yan Xinxiang, Zhu Xiongwei, Tang Beisha
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha, 410008, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008, Hunan, People's Republic of China.
J Neurol Sci. 2016 Aug 15;367:11-4. doi: 10.1016/j.jns.2016.05.037. Epub 2016 May 19.
Parkinson's disease (PD) is the second most common neurodegenerative disorder. Genome-wide association studies have confirmed the association of single nucleotide polymorphisms (SNPs) located in the SNCA gene with the risk of PD. While hypomethylation of the SNCA intron-1 was observed in patients with sporadic PD, an association between SNCA SNPs and SNCA methylation levels has been identified. To investigate whether these SNPs are associated with the level of SNCA methylation in the Chinese population, we genotyped SNCA SNPs and analyzed the relationship between SNCA SNPs and SNCA DNA methylation status from peripheral blood mononuclear cells of Chinese Han PD patients. Our results revealed that the rs3756063 polymorphism could contribute to the risk of PD in the Chinese Han population and confirmed the effect of this polymorphism on SNCA DNA methylation. Further studies will be needed to gain a better understanding of the mechanisms underlying the associations between SNPs, methylation and PD pathogenesis.
帕金森病（PD）是第二常见的神经退行性疾病。全基因组关联研究已证实位于SNCA基因的单核苷酸多态性（SNP）与PD风险相关。虽然在散发性PD患者中观察到SNCA内含子1的低甲基化，但已确定SNCA SNP与SNCA甲基化水平之间存在关联。为了研究这些SNP是否与中国人群中SNCA甲基化水平相关，我们对中国汉族PD患者外周血单个核细胞中的SNCA SNP进行基因分型，并分析了SNCA SNP与SNCA DNA甲基化状态之间的关系。我们的结果显示，rs3756063多态性可能导致中国汉族人群患PD的风险，并证实了这种多态性对SNCA DNA甲基化的影响。需要进一步研究以更好地理解SNP、甲基化与PD发病机制之间关联的潜在机制。
