RT Journal Article
SR Electronic
T1 Rare copy number variants in <em>NRXN1</em> and <em>CNTN6</em> increase risk for Tourette syndrome
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 062471
DO 10.1101/062471
A1 Alden Y. Huang
A1 Dongmei Yu
A1 Lea K. Davis
A1 Jae-Hoon Sul
A1 Fotis Tsetsos
A1 Vasily Ramensky
A1 Ivette Zelaya
A1 Eliana Marisa Ramos
A1 Lisa Osiecki
A1 Jason A. Chen
A1 Lauren M. McGrath
A1 Cornelia Illmann
A1 Paul Sandor
A1 Cathy L. Barr
A1 Marco Grados
A1 Harvey S. Singer
A1 Markus M. Noethen
A1 Johannes Hebebrand
A1 Robert A. King
A1 Yves Dion
A1 Guy Rouleau
A1 Cathy L. Budman
A1 Christel Depienne
A1 Yulia Worbe
A1 Andreas Hartmann
A1 Kirsten R. Muller-Vahl
A1 Manfred Stuhrmann
A1 Harald Aschauer
A1 Mara Stamenkovic
A1 Monika Schloegelhofer
A1 Anastasios Konstantinidis
A1 Gholson J. Lyon
A1 William M. McMahon
A1 Csaba Barta
A1 Zsanett Tarnok
A1 Peter Nagy
A1 James R. Batterson
A1 Renata Rizzo
A1 Danielle C. Cath
A1 Tomasz Wolanczyk
A1 Cheston Berlin
A1 Irene A. Malaty
A1 Michael S. Okun
A1 Douglas W. Woods
A1 Elliott Rees
A1 Carlos N. Pato
A1 Michele T. Pato
A1 James A Knowles
A1 Danielle Posthuma
A1 David L. Pauls
A1 Nancy J. Cox
A1 Benjamin M. Neale
A1 Nelson B. Freimer
A1 Peristera Paschou
A1 Carol A. Mathews
A1 Jeremiah M. Scharf
A1 Giovanni Coppola
YR 2016
UL http://biorxiv.org/content/early/2016/07/08/062471.abstract
AB 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.