α-synuclein gene haplotypes are associated with Parkinson's disease
α-synuclein gene haplotypes are associated with Parkinson's disease
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DOI：
10.1093/hmg/10.17.1847
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发表时间：
2001-08-15
影响因子：
3.5
通讯作者：
Hernandez, D
中科院分区：
文献类型：
--
作者：
Farrer, M;Maraganore, DM;Hernandez, D
我们报告单倍型分析的α-突触核蛋白基因在帕金森氏病（PD），延长早期报告的关联与基因启动子内的多态性。该分析显示PD病例和对照之间的单倍型存在显著差异。我们的分析表明，α-突触核蛋白基因的遗传变异性是PD发生的危险因素。这些遗传发现类似于在进行性核上性麻痹中过度代表的tau单倍型，并进一步扩展了突触核蛋白病和tau蛋白病的病因和发病机制的相似性。
We report haplotype analysis of the alpha -synuclein gene in Parkinson's disease (PD), extending earlier reports of an association with a polymorphism within the gene promoter. This analysis showed significant differences in haplotypes between PD cases and controls. Our analyses demonstrate that genetic variability in the alpha -synuclein gene is a risk factor for the development of PD. These genetic findings are analogous to the tau haplotype over-represented in progressive supranuclear palsy and further extend the similarity in the etiologies and pathogeneses of the synucleinopathies and tauopathies.