title: The role of GRIN2B in Tourette syndrome: Results from a transmission disequilibrium study.
abstract: BACKGROUND
  Previous studies have indicated that dopamine interacts with glutamatergic projection neurons and that N-methyl-d-aspartate (NMDA) receptors might be involved in the pathogenesis of Tourette syndrome (TS). In this study, we examined whether two functional polymorphisms (rs1805476 and rs1805502) in the 3'UTR of the NMDA receptor 2B subunit gene (GRIN2B) were associated with TS in Chinese Han trios.
  
  
  METHODS
  DNA samples collected from 261 TS nuclear families were genotyped by PCR and direct sequencing technology. Haplotype relative risk (HRR), transmission disequilibrium test (TDT) and Haplotype-based haplotype relative risk (HHRR) analyses were performed on the genotype data.
  
  
  RESULTS
  We found an over-transmission of the A allele in rs1805476 and the T allele in rs1805502 from parents to their affected children, using the HRR (rs1805476: HRR=0.696, χ(2)=4.161, P=0.041, 95% CI: 0.491-0.986; rs1805502: HRR=0.697, χ(2)=3.954, P=0.047, 95% CI: 0.488-0.995). There was also strong evidence for a linkage between polymorphisms and TS using the TDT (rs1805476: TDT=5.447, df=1, P=0.024; rs1805502: TDT=5.233, df=1, P=0.027).
  
  
  CONCLUSIONS
  The sample is small and the current population is just limited to the Chinese Han population.
  
  
  CONCLUSIONS
  These data support the hypothesis that GRIN2B might play a major role in the pathogenesis of TS in Chinese Han trios. However, these results need to be replicated using larger datasets collected from different populations.
authors: Departmen of Neurology, Provincial Hospital affiliated Shandong University, No. 44 wenhua west road, Jinan, Shandong 250012, PR China; Department of Neurology, Linyi People's Hospital, Shandong University No. 27 Jiefang Road, Linyi, Shandong 276003, PR China.
authors: Fengyuan
authors: F
authors: Che
authors: Child Healthcare Department, The Affiliated Hospital of Qingdao University, Qingdao 266003, PR China.
authors: Ying
authors: Y
authors: Zhang
authors: Child Healthcare Department, Rizhao people's Hospital, Shandong, PR China.
authors: Guiju
authors: G
authors: Wang
authors: Department of Neurology, Linyi People's Hospital, Shandong University No. 27 Jiefang Road, Linyi, Shandong 276003, PR China.
authors: Xueyuan
authors: X
authors: Heng
authors: Prenatal diagnosis center, The Affiliated Hospital of Qingdao University, Qingdao 266003, PR China. Electronic address: liushiguo2002@126.com.
authors: Shiguo
authors: S
authors: Liu
authors: Departmen of Neurology, Provincial Hospital affiliated Shandong University, No. 44 wenhua west road, Jinan, Shandong 250012, PR China. Electronic address: duyifengpmd2000@yahoo.com.cn.
authors: Yifeng
authors: Y
authors: Du
mesh_terms: D000328:Adult; D002648:Child; D002681:China; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*; D009435:Synaptic Transmission / Q000235:genetics*; D005879:Tourette Syndrome / Q000235:genetics*
chemical_list: C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate
keywords: Grin2B; HRR; TDT; TS