α-突触核蛋白多态性与萨斯喀彻温省人群的帕金森病有关。
Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population.
机构信息
Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, Saskatchewan, Canada.
出版信息
Mov Disord. 2009 Dec 15;24(16):2411-4. doi: 10.1002/mds.22795.
Alpha-synuclein gene (SNCA) mutations cause familial Parkinsonism but the role of SNCA variability in idiopathic Parkinson's disease (PD) remains incompletely defined. We report a study of SNCA genetic variation in 452 idiopathic PD cases and 245 controls. SNCA copy number mutations were not associated with early-onset disease in this population. The minor allele "G" at rs356165 was associated with increased odds of PD (P = 0.013) and genetic variation in D4S3481 (Rep1) was associated with age of disease onset (P = 0.007). There was a trend toward association between variation at rs2583988 and rapid PD progression.
α-突触核蛋白基因 (SNCA) 突变可导致家族性帕金森病，但 SNCA 变异在特发性帕金森病 (PD) 中的作用仍不完全明确。我们报告了对 452 例特发性 PD 病例和 245 例对照的 SNCA 遗传变异研究。在该人群中，SNCA 拷贝数突变与早发性疾病无关。rs356165 上的次要等位基因“G”与 PD 的患病几率增加相关（P = 0.013），D4S3481（Rep1）的遗传变异与疾病发病年龄相关（P = 0.007）。rs2583988 处的变异与 PD 的快速进展之间存在关联趋势。
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