PITX3 多态性与早发性帕金森病有关。
PITX3 polymorphism is associated with early onset Parkinson's disease.
机构信息
Department of Pharmacology, The Sahlgrenska Academy at the University of Gothenburg, P.O. Box 431, S 405 30 Göteborg, Sweden.
出版信息
Neurobiol Aging. 2010 Jan;31(1):114-7. doi: 10.1016/j.neurobiolaging.2008.03.008. Epub 2008 Apr 16.
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.
PITX3 是一种转录因子，对中脑多巴胺能神经元的分化和存活很重要，其基因在帕金森病（PD）的一种假定小鼠模型中被破坏。在 361 名 PD 患者和 333 名对照者的人群中，对 HapMap 标记 SNP（rs4919621）进行了基因分型，该 SNP 的 A 等位基因在发病年龄较早的 PD 患者中明显更为常见，与对照者相比（p=0.002）或与发病年龄较晚的 PD 患者相比（p=0.001）。相比之下，先前的一项发现表明，PITX3 基因假定启动子区域的 SNP（rs3758549）与 PD 相关，但这一发现无法得到复制。
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