title: Genetic analysis of PITX3 variants in patients with essential tremor.
abstract: BACKGROUND
  A clinical overlap between essential tremor (ET) and Parkinson's disease (PD) has prompted investigation whether these disorders share common genetic factors. The paired-like homeodomain transcription factor 3 gene (PITX3) has been shown to play an important role for the differentiation and survival of midbrain dopaminergic neurons in the substantia nigra pars compacta. The preferential degeneration of those dopaminergic neurons is the pathological hallmark in PD.
  
  
  OBJECTIVE
  The purpose of this study was to evaluate whether PITX3 variants are related to susceptibility of ET in Chinese Han population.
  
  
  METHODS
  Genetic analysis of two variants rs3758549 and rs4919621 of the PITX3 gene was conducted in 200 Chinese Han patients with ET and 426 controls.
  
  
  RESULTS
  We did not identify any statistically significant difference in either genotypic or allelic frequencies of variants between the ET patients and control cohort (all P > 0.05). Haplotype analysis of two variants in the PITX3 gene showed no potential association between the haplotypes and risk of ET (all P > 0.05).
  
  
  CONCLUSIONS
  Our data suggest that PITX3 variants rs3758549 and rs4919621 are not associated with ET in Chinese Han population.
authors.affiliation: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.|Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.affiliation: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Song
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: L
authors.initials: L
authors.lastname: Yuan
authors.affiliation: Cancer Research Institute, Xiangya School of Medicine, Central South University, Changsha, China.
authors.forename: W
authors.initials: W
authors.lastname: Xiong
authors.affiliation: Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Yang
authors.affiliation: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: L
authors.initials: L
authors.lastname: Gong
authors.affiliation: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.|Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
authors.forename: H
authors.initials: H
authors.lastname: Deng
mesh_terms: D000328:Adult; D002681:China; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; C433629:homeobox protein PITX3
keywords: PITX3 gene; Parkinson's disease; essential tremor; genetic analysis; rs3758549; rs4919621