Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, PR China.
Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):452-6. doi: 10.1002/ajmg.b.32143. Epub 2013 Jun 5.
Alpha-synuclein gene (SNCA) polymorphisms have been associated with Parkinson's disease (PD). A recently published genome-wide association study (GWAS) meta-analysis from the USA and Europe found a strong association between SNCA rs356219 and PD. Considering the population-specific heterogeneity, we investigated the role of SNCA rs356219 as PD susceptibility in a large Han Chinese population of 685 patients and 569 controls. The SNCA rs356219-G allele was found to increase the risk to develop PD (OR = 1.81, 95% CI: 1.54-2.13, P = 5.71E-13). The meta-analysis revealed that the frequency of AG + GG genotypes higher in PD than in control subjects (OR = 1.85, 95% CI: 1.56-2.19, P = 0.00001) in the Asian population. PD patients with AG + GG genotypes were associated with earlier age at onset compared with those with AA genotype. No such significant association was observed in the clinical presentation for gender, age at onset, and onset symptoms. Our study provides strong support for the susceptibility role of SNCA rs356219 in sporadic PD in a Han Chinese population from mainland China and the meta-analysis also revealed a similar finding in the Asian population.
α-突触核蛋白基因（SNCA）多态性与帕金森病（PD）有关。美国和欧洲最近发表的一项全基因组关联研究（GWAS）荟萃分析发现，SNCA rs356219 与 PD 之间存在强烈关联。考虑到人群特异性异质性，我们在中国汉族 685 名患者和 569 名对照中研究了 SNCA rs356219 作为 PD 易感性的作用。SNCA rs356219-G 等位基因被发现增加了患 PD 的风险（OR = 1.81，95%CI：1.54-2.13，P = 5.71E-13）。荟萃分析显示，AG + GG 基因型在 PD 患者中的频率高于对照组（OR = 1.85，95%CI：1.56-2.19，P = 0.00001）。与 AA 基因型相比，具有 AG + GG 基因型的 PD 患者发病年龄更早。在性别、发病年龄和发病症状的临床表现中，未观察到这种显著关联。我们的研究为 SNCA rs356219 在中国大陆汉族散发性 PD 中的易感性作用提供了有力支持，荟萃分析也揭示了亚洲人群中的类似发现。
