Lack of replication of association between GIGYF2 variants and Parkinson disease
Lack of replication of association between GIGYF2 variants and Parkinson disease
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DOI：
10.1093/hmg/ddn340
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发表时间：
2009-01-15
影响因子：
3.5
通讯作者：
Singleton, Andrew B.
中科院分区：
文献类型：
--
作者：
Bras, Jose;Simon-Sanchez, Javier;Singleton, Andrew B.
最近，GIGYF2 突变被描述为欧洲人帕金森病的病因。为了在独立群体中复制这些结果，我们对大量葡萄牙和北美样本中的 GIGYF2 整个编码区进行了测序。我们报告了在神经正常对照个体中发现的两个先前发表的突变。这表明 GIGYF2 的突变与这两个人群中疾病的发展并没有很强的相关性。
Mutations in GIGYF2 have recently been described as causative of Parkinson's disease in Europeans. In an attempt to replicate these results in independent populations, we sequenced the entire coding region of GIGYF2 in a large series of Portuguese and North American samples. We report the finding of two of the previously published mutations in neurologically normal Control individuals. This suggests that mutations in GIGYF2 are not strongly related to the development of the disease in either of these populations.