Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 74,094 bioRxiv papers from 322,357 authors.
Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome
Alden Y Huang,
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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