Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome
Alden Y Huang,
Lea K. Davis,
Eliana Marisa Ramos,
Jason A Chen,
Lauren M McGrath,
Cathy L Barr,
Harvey S. Singer,
Markus M. Noethen,
Robert A King,
Guy A. Rouleau,
Cathy L Budman,
Kirsten R Muller-Vahl,
Gholson J. Lyon,
William M McMahon,
James R Batterson,
Danielle C Cath,
Irene A Malaty,
Michael S Okun,
Douglas W Woods,
Carlos N Pato,
Michele T Pato,
James A. Knowles,
David L Pauls,
Nancy J. Cox,
Benjamin M. Neale,
Nelson B Freimer,
Carol A. Mathews,
Jeremiah M. Scharf,
Posted 08 Jul 2016
bioRxiv DOI: 10.1101/062471 (published DOI: 10.1016/j.neuron.2017.06.010)
Posted 08 Jul 2016
Tourette syndrome (TS) is highly heritable, although identification of its underlying genetic cause(s) has remained elusive. We examined a European ancestry sample composed of 2,435 TS cases and 4,100 controls for copy-number variants (CNVs) using SNP microarrays and identified two genome-wide significant loci that confer a substantial increase in risk for TS (NRXN1, OR=20.3, 95%CI [2.6-156.2], p=6.0 × 10-6; CNTN6, OR=10.1, 95% CI [2.3-45.4], p=3.7 × 10-5). Approximately 1% of TS cases carried one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS.
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