Genetic Association Signal Near NTN4 in Tourette Syndrome

P Paschou, DM Yu, G Gerber, P Evans, F Tsetsos, LK Davis, I Karagiannidis, J Chaponis, E Gamazon, K Mueller-Vahl, M Stuhrmann, M Schloegelhofer, M Stamenkovic, J Hebebrand, M Noethen, P Nagy, C Barta, Z Tarnok, R Rizzo, C DepienneY Worbe, A Hartmann, DC Cath, CL Budman, P Sandor, C Barr, T Wolanczyk, H Singer, IC Chou, M Grados, Daniëlle Posthuma, GA Rouleau, H Aschauer, NB Freimer, DL Pauls, NJ Cox, CA Mathews, JM Scharf

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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 x 10 (-4)) remained significant after Bonferroni correction. Meta-analysis with the original GWAS yielded the strongest association to date (p = 5.8 x 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.
Original languageUndefined/Unknown
Pages (from-to)310-315
Number of pages6
JournalAnnals of Neurology
Issue number2
Publication statusPublished - 2014

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