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Genetic association signal near NTN4 in Tourette syndrome

  • Peristera Paschou
  • , Dongmei Yu
  • , Gloria Gerber
  • , Patrick Evans
  • , Fotis Tsetsos
  • , Lea K. Davis
  • , Iordanis Karagiannidis
  • , Jonathan Chaponis
  • , Eric Gamazon
  • , Kirsten Mueller-Vahl
  • , Manfred Stuhrmann
  • , Monika Schloegelhofer
  • , Mara Stamenkovic
  • , Johannes Hebebrand
  • , Markus Noethen
  • , Peter Nagy
  • , Csaba Barta
  • , Zsanett Tarnok
  • , Renata Rizzo
  • , Christel Depienne
  • Yulia Worbe, Andreas Hartmann, Danielle C. Cath, Cathy L. Budman, Paul Sandor, Cathy Barr, Thomas Wolanczyk, Harvey Singer, I. Ching Chou, Marco Grados, Danielle Posthuma, Guy A. Rouleau, Harald Aschauer, Nelson B. Freimer, David L. Pauls, Nancy J. Cox, Carol A. Mathews, Jeremiah M. Scharf, T. Wolanzcyk
  • Democritus University of Thrace
  • Massachusetts General Hospital
  • Massachusetts Institute of Technology
  • The University of Chicago
  • Hannover Medical School
  • Medical University of Vienna
  • University of Duisburg-Essen
  • University of Bonn
  • Vadaskert Child and Adolescent Psychiatric Hospital, Budapest, Hungary
  • Semmelweis University
  • University of Catania
  • INSERM, UMR 1127, Paris Brain & Spine Institute (ICM), Paris, France
  • Sorbonne Université
  • Centre de Référence National Maladie Rare: 'Syndrome Gilles de la Tourette'
  • Utrecht University
  • Amsterdam UMC - Vrije Universiteit Amsterdam
  • Hofstra University
  • Northwell Health System
  • Krembil Research Institute
  • Youthdale Treatment Centers
  • Medical University of Warsaw
  • Johns Hopkins University
  • China Medical University Taichung
  • Vrije Universiteit Amsterdam
  • Erasmus University Rotterdam
  • McGill University
  • University of California at Los Angeles
  • University of California at San Francisco
  • Brigham and Women’s Hospital

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Tourette syndrome (TS) is a neurodevelopmental disorder with a complex genetic etiology. Through an international collaboration, we genotyped 42 single nucleotide polymorphisms (p < 10-3) from the recent TS genomewide association study (GWAS) in 609 independent cases and 610 ancestry-matched controls. Only rs2060546 on chromosome 12q22 (p = 3.3 × 10-4) remained significant after Bonferroni correction. Meta-analysis with the original GWAS yielded the strongest association to date (p = 5.8 × 10 -7). Although its functional significance is unclear, rs2060546 lies closest to NTN4, an axon guidance molecule expressed in developing striatum. Risk score analysis significantly predicted case-control status (p = 0.042), suggesting that many of these variants are true TS risk alleles. © 2014 American Neurological Association.
Original languageEnglish
Pages (from-to)310-315
JournalAnnals of neurology
Volume76
Issue number2
DOIs
Publication statusPublished - 2014

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