title: Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population.
abstract: OBJECTIVE
  TOR1A (torsin family 1, member A) and THAP1 (THAP domain containing, apoptosis associated protein 1) are two candidate genes that have been reported to be linked to adult-onset primary dystonia. However, the overall results have been inconsistent, likely because primary dystonia may have subtype-specific genetic risk factors. The aim of our study was to assess the association of TOR1A and THAP1 with adult-onset primary focal dystonia (AOPFD), the most common subtype of primary dystonia.
  
  
  METHODS
  A total of 248 subjects, comprising 117 AOPFD patients and 131 healthy controls, were included in our study. All coding exons of TOR1A and THAP1 were initially analyzed in the 117 patients. Subsequently, we investigated the association of two common TOR1A variants (rs2296793, rs1801968) with AOPFD in a Chinese population (117 patients versus 131 controls) and performed a pooled analysis by combining our data with previously published data.
  
  
  RESULTS
  No mutation of TOR1A and THAP1 was found other than two TOR1A variants (rs2296793, rs1801968), which have been previously reported in AOPFD patients. There were no statistically significant differences in the minor allele frequency (MAF) and genotype frequency between AOPFD and controls in our Chinese population (P>0.05). This result was confirmed by pooled analysis of multi-ethnic groups.
  
  
  CONCLUSIONS
  Our study suggested that there might not be an association between TOR1A or THAP1 and patients with AOPFD.
authors.affiliation: Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025 China; Laboratory of Neurodegenerative Diseases & Key Laboratory of Stem Cell Biology, Institute of Health Science, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) & Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025 China.
authors.forename: Chenchi
authors.initials: C
authors.lastname: Duan
authors.affiliation: Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025 China; Laboratory of Neurodegenerative Diseases & Key Laboratory of Stem Cell Biology, Institute of Health Science, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) & Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Gao
authors.affiliation: Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025 China; Laboratory of Neurodegenerative Diseases & Key Laboratory of Stem Cell Biology, Institute of Health Science, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) & Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.affiliation: Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025 China; Laboratory of Neurodegenerative Diseases & Key Laboratory of Stem Cell Biology, Institute of Health Science, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) & Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Jianqing
authors.initials: J
authors.lastname: Ding
authors.affiliation: Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, China.
authors.forename: Victoria T
authors.initials: VT
authors.lastname: Liu
authors.affiliation: Department of Neurology & Institute of Neurology, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025 China; Laboratory of Neurodegenerative Diseases & Key Laboratory of Stem Cell Biology, Institute of Health Science, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) & Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: consentir@126.com.
authors.forename: Yiwen
authors.initials: Y
authors.lastname: Wu
mesh_terms: D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D018832:Molecular Chaperones; D009687:Nuclear Proteins; C474080:THAP1 protein, human; C108175:TOR1A protein, human
keywords: Adult-onset primary dystonia; Chinese population; Single nucleotide polymorphism; THAP1; TOR1A