PITX3 polymorphism is associated with early onset Parkinson's disease

被引：56

作者：

Bergman, Olle ^{[1
]}

Hakansson, Anna ^{[1
]}

Westberg, Lars ^{[1
]}

Nordenstrom, Kajsa ^{[1
]}

Belin, Andrea Carmine ^{[3
]}

Sydow, Olof ^{[4
]}

Olson, Lars ^{[3
]}

Holmberg, Bjorn ^{[2
]}

Eriksson, Elias ^{[1
]}

Nissbrandt, Hans ^{[1
]}

机构：

[1] Univ Gothenburg, Sahlgrenska Acad, Dept Pharmacol, S-40530 Gothenburg, Sweden

[2] Univ Gothenburg, Sahlgrenska Acad, Dept Clin Neurosci & Rehabil, Inst Neurosci & Physiol, S-40530 Gothenburg, Sweden

[3] Karolinska Inst, Dept Neurosci, Stockholm, Sweden

[4] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden

来源：

NEUROBIOLOGY OF AGING | 2010年 / 31卷 / 01期

基金：

瑞典研究理事会;

关键词：

Pitx3; Ptx3; Dopamine; Substantia nigra; Dopaminergic neurons; PD; Neuronal development; MESENCEPHALIC DOPAMINERGIC-NEURONS; HOMEOBOX GENE; APHAKIA MICE; SUBSTANTIA-NIGRA; LENS DEVELOPMENT; EXPRESSION; DELETION; REGION;

D O I：

10.1016/j.neurobiolaging.2008.03.008

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

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.

引用

页码：114 / 117

页数：4

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