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PITX3 polymorphism is associated with early onset Parkinson's disease.

Journal article
Authors Olle Bergman
Anna Håkansson
Lars Westberg
Carmine Belin
O Sydow
L Olson
Elias Eriksson
Hans Nissbrandt
Published in Neurobiology of aging
Volume 31
Issue 1
Pages 114-117
ISSN 1558-1497
Publication year 2010
Published at Institute of Neuroscience and Physiology, Department of Pharmacology
Pages 114-117
Language en
Subject categories Physiology


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.

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