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Genetic association signal near NTN4 in Tourette syndrome

By 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 and Jeremiah M Scharf

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

Topics: Adult, Case-Control Studies, Genome-Wide Association Study, Humans, Nerve Growth Factors, Polymorphism, Single Nucleotide, Tourette Syndrome
Year: 2014
OAI identifier: oai:dspace.library.uu.nl:1874/307025
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