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CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

PloS one | Mar 27, 2013

Tourette syndrome (TS) is a neuropsychiatric disorder with a strong genetic component. However, the genetic architecture of TS remains uncertain. Copy number variation (CNV) has been shown to contribute to the genetic make-up of several neurodevelopmental conditions, including schizophrenia and autism. Here we describe CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations. After extensive quality control, we found that cases (N = 179) have a significant excess (P = 0.006) of large CNV (>500 kb) calls compared to controls (N = 234). Amongst 24 large CNVs seen only in the cases, we observed four duplications of the COL8A1 gene region. We also found two cases with ∼400 kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS. Follow-up using multiplex ligation-dependent probe amplification (and including 53 more TS cases) validated the CNV calls and identified additional patients with rearrangements in COL8A1 and NRXN1, but none in controls. Examination of available parents indicates that two out of three NRXN1 deletions detected in the TS cases are de-novo mutations. Our results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.

Pubmed ID: 23533600 RIS Download

Mesh terms: Adolescent | Cell Adhesion Molecules, Neuronal | Child | Collagen Type IX | DNA Copy Number Variations | Female | Genetic Predisposition to Disease | Genotype | Humans | Male | Nerve Tissue Proteins | Polymorphism, Single Nucleotide | Tourette Syndrome

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Associated grants

  • Agency: Medical Research Council, Id: G1001158
  • Agency: NIMH NIH HHS, Id: K23 MH085057
  • Agency: NINDS NIH HHS, Id: NS037484
  • Agency: NINDS NIH HHS, Id: U01 NS040024
  • Agency: NINDS NIH HHS, Id: NS40024
  • Agency: NINDS NIH HHS, Id: P30 NS062691
  • Agency: NIMH NIH HHS, Id: MH085057
  • Agency: NINDS NIH HHS, Id: NS043538
  • Agency: NIMH NIH HHS, Id: T32 MH016259
  • Agency: NINDS NIH HHS, Id: R01 NS037484
  • Agency: NINDS NIH HHS, Id: NS16648

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Software for population genetics analysis. The EIGENSOFT package combines functionality from our population genetics methods (Patterson et al. 2006) and our EIGENSTRAT stratification method (Price et al. 2006). The EIGENSTRAT method uses principal components analysis to explicitly model ancestry differences between cases and controls along continuous axes of variation; the resulting correction is specific to a candidate marker''s variation in frequency across ancestral populations, minimizing spurious associations while maximizing power to detect true associations. The EIGENSOFT package has a built-in plotting script and supports multiple file formats and quantitative phenotypes. Source code, documentation and executables for using EIGENSOFT 3.0 on a Linux platform can be downloaded. New features of EIGENSOFT 3.0 include supporting either 32-bit or 64-bit Linux machines, a utility to merge different data sets, a utility to identify related samples (accounting for population structure), and supporting multiple file formats for EIGENSTRAT stratification correction.


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