PITX3 polymorphism is associated with early onset Parkinson's disease
PITX3 polymorphism is associated with early onset Parkinson's disease
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DOI：
10.1016/j.neurobiolaging.2008.03.008
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发表时间：
2010-01-01
影响因子：
4.2
通讯作者：
Nissbrandt, Hans
中科院分区：
文献类型：
--
作者：
Bergman, Olle;Hakansson, Anna;Nissbrandt, Hans
PITX3 是一种对于中脑多巴胺能神经元的分化和存活至关重要的转录因子，其基因在帕金森病 (PD) 的假定小鼠模型中被破坏。 HapMap 的 A 等位基因标记 SNP (rs4919621)，在 361 名 PD 患者（其中 69 名早发患者）和 333 名对照组中进行基因分型，与对照组 (p = 0.002) 或晚发 PD 患者 (p = 0.001) 相比，在早发 PD 患者中显着更常见。相比之下，先前的研究结果表明 PITX3 基因的推定启动子区域中的 SNP (rs3758549) 与 PD 相关，但这一结果无法复制。 (C) 2008 Elsevier Inc. 保留所有权利。
PITX3 is a transcription factor of importance for the differentiation and survival of midbrain dopaminergic neurons, the gene of which is disrupted in a putative mouse model for Parkinson's disease (PD). The A-allele of a HapMap, tagging SNP (rs4919621) that was genotyped in a population of 361 PD patients, 69 of which had early onset, and in 333 controls, was significantly more common in PD patients with an early age of onset when compared either to controls (p = 0.002) or to PD patients with late onset (p = 0.001). In contrast, a previous finding suggesting a SNP (rs3758549) in the putative promoter region of the PITX3 gene to be associated with PD could not be replicated. (C) 2008 Elsevier Inc. All rights reserved.