PITX3 polymorphism is associated with early onset Parkinson's disease.
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.
Bergman
Olle
O
Department of Pharmacology, The Sahlgrenska Academy at the University of Gothenburg, P.O. Box 431, S 405 30 Göteborg, Sweden. olle.bergman@pharm.gu.se
Håkansson
Anna
A
Westberg
Lars
L
Nordenström
Kajsa
K
Carmine Belin
Andrea
A
Sydow
Olof
O
Olson
Lars
L
Holmberg
Björn
B
Eriksson
Elias
E
Nissbrandt
Hans
H
D017668:Age of Onset; D001923:Brain Chemistry / Q000235:genetics*; D002470:Cell Survival / Q000235:genetics; D004252:DNA Mutational Analysis; D004298:Dopamine / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration / Q000235:genetics / Q000378:metabolism; D009474:Neurons / Q000378:metabolism; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D013378:Substantia Nigra / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics*
D005819:Genetic Markers; D018398:Homeodomain Proteins; D014157:Transcription Factors; C433629:homeobox protein PITX3; D004298:Dopamine