Transcription factor PITX3 gene in Parkinson's disease.
PITX3 is a transcription factor important for the differentiation and survival of midbrain dopaminergic neurons during the development. Recent reports suggest that single nucleotide polymorphisms (SNP) in the gene may be associated with Parkinson's disease (PD). To verify their findings and to determine the nature of the association in a subset of our PD patients we have analyzed two PITX3 SNPs (rs2281983 and rs4919621) in 265 PD patients and compared them with 210 age-matched healthy controls. Our data show that the substitutions of C/T in SNP1 and A/T in SNP2 are significantly higher in PD, and this finding is even more robust in young onset and familial PD as compared with age-matched healthy controls. Our findings indicate that PITX3 may play a role in the pathogenesis of PD.
Le
Weidong
W
Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA. weidongl@bcm.edu
Nguyen
Deanne
D
Lin
Xiyao Wendy
XW
Rawal
Pawan
P
Huang
Maosheng
M
Ding
Yujian
Y
Xie
Wenjie
W
Deng
Hao
H
Jankovic
Joseph
J
D000483:Alleles; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; D014157:Transcription Factors; C433629:homeobox protein PITX3