Transcription factor PITX3 gene in Parkinson's disease

Weidong Le, Deanne Nguyen, Xiyao Wendy Lin, Pawan Rawal, Maosheng Huang, Yujian Ding, Wenjie Xie, Hao Deng, Joseph Jankovic

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)750-753
Number of pages4
JournalNeurobiology of Aging
Issue number4
StatePublished - Apr 2011


  • Dopaminergic neurons
  • Neurogenetics
  • Single nucleotide polymorphisms
  • Substantia nigra

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Aging
  • Developmental Biology
  • Geriatrics and Gerontology


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