Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease

Yi Guo, Wei Dong Le, Joseph Jankovic, Hua Rong Yang, Hong Bo Xu, Wen Jie Xie, Zhi Song, Hao Deng

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Background:: Paired-like homodomain transcription factor 3 has been found to be important for the differentiation and survival of midbrain dopaminergic neurons. Methods:: To determine whether genetic variation in the coding region of the paired-like homodomain transcription factor 3 gene plays a role in Parkinson's disease, genetic analysis was performed in 112 patients with Parkinson's disease. Results:: We did not identify any mutations except rs2281983, but when we extended the analysis of rs2281983 and 2 intron variants (rs4919621 and rs3758549) in 336 patients with Parkinson's disease and 244 controls, we found that rs2281983 and rs4919621 appeared to confer susceptibility to Parkinson's disease, especially in early-onset Parkinson's disease and familial Parkinson's disease.

Original languageEnglish (US)
Pages (from-to)1729-1732
Number of pages4
JournalMovement Disorders
Issue number9
StatePublished - Aug 1 2011


  • Paired-like homodomain transcription factor 3
  • Parkinson disease
  • Susceptibility
  • Transcription factor

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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