Genetic association signal near NTN4 in Tourette syndrome
Paschou, Peristera; Yu, Dongmei; Gerber, Gloria; Evans, Patrick; Tsetsos, Fotis; Davis, Lea K; Karagiannidis, Iordanis; Chaponis, Jonathan; Gamazon, Eric; Mueller-Vahl, Kirsten; Stuhrmann, Manfred; Schloegelhofer, Monika; Stamenkovic, Mara; Hebebrand, Johannes; Noethen, Markus; Nagy, Peter; Barta, Csaba; Tarnok, Zsanett; Rizzo, Renata; Depienne, Christel; Worbe, Yulia; Hartmann, Andreas; Cath, Danielle C; Budman, Cathy L; Sandor, Paul; Barr, Cathy; Wolanczyk, Thomas; Singer, Harvey; Chou, I-Ching; Grados, Marco; Posthuma, Danielle; Rouleau, Guy A; Aschauer, Harald; Freimer, Nelson B; Pauls, David L; Cox, Nancy J; Mathews, Carol A; Scharf, Jeremiah M
(2014) Annals of Neurology, volume 76, issue 2, pp. 310 - 5
(Article)
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
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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.
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Keywords: Adult, Case-Control Studies, Genome-Wide Association Study, Humans, Nerve Growth Factors, Polymorphism, Single Nucleotide, Tourette Syndrome
ISSN: 0364-5134
Publisher: John Wiley and Sons Inc.
Note: © 2014 American Neurological Association.
(Peer reviewed)