Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome
Alden Y Huang, Dongmei YuiD, Lea K Davis, Jae-Hoon Sul, Fotis TsetsosiD, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa OsieckiiD, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul SandoriD, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Noethen, Johannes HebebrandiD, Robert A King, Yves DioniD, Guy Rouleau, Cathy L Budman, Christel DepienneiD, Yulia WorbeiD, Andreas HartmanniD, , Danielle C Cath
Abstract
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 x 10-6; CNTN6, OR=10.1, 95% CI [2.3-45.4], p=3.7 x 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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