Genetic association signal near NTN 4 in T ourette syndrome
Year: 2014
Type: article
Study design: Observational Study
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.
Source: Annals of Neurology
DOI: 10.1002/ana.24215
Authors: 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
Institutions: Democritus University of Thrace, Broad Institute, Harvard University, Massachusetts General Hospital, Stanley Center for Psychiatric Research, Massachusetts Institute of Technology, University of Chicago, Medizinische Hochschule Hannover, Medical University of Vienna, University of Duisburg-Essen, University of Bonn, Vadaskert Alapítvány a Gyermekek Lelki Egészségéért, Semmelweis University, University of Catania, Inserm, Pitié-Salpêtrière Hospital, Institut du Cerveau, Université Pierre-et-Marie-Curie, Utrecht University, Amsterdam UMC Location Vrije Universiteit Amsterdam, Northwell Health, Hofstra University, University Health Network, Medical University of Warsaw, Johns Hopkins University, Johns Hopkins Medicine, China Medical University, China Medical University Hospital, Erasmus MC, Amsterdam Neuroscience, Erasmus MC - Sophia Children’s Hospital, Vrije Universiteit Amsterdam, Montreal Neurological Institute and Hospital, McGill University, University of California, Los Angeles, University of California, San Francisco, Brigham and Women's Hospital
Language: English
Subfield: Clinical Psychology
Field: Psychology
Domain: Social Sciences
Open Access status: green
Awards: Translational phenomics and genomics of Gilles de la Tourette Syndrome, G1230690694, G1899670012, G4048154027, A Genetic Study of GTS, OCD and ADHD, A Genetic Linkage Study of GTS, A GENETIC LINKAGE STUDY OF GTS, G6641482821, Population Genetic Mapping of Tourette Syndrome, G777869949, G8145384037
OpenAlex ID: W1825210022