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 DepienneYulia 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

Research output: Contribution to journalArticle

35 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)310-315
Number of pages6
JournalAnnals of Neurology
Issue number2
Publication statusPublished - Aug 2014

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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  • Cite this

    Paschou, P., Yu, D., Gerber, G., Evans, P., Tsetsos, F., Davis, L. K., Karagiannidis, I., Chaponis, J., Gamazon, E., Mueller-Vahl, K., Stuhrmann, M., Schloegelhofer, M., Stamenkovic, M., Hebebrand, J., Noethen, M., Nagy, P., Barta, C., Tarnok, Z., Rizzo, R., ... Scharf, J. M. (2014). Genetic association signal near NTN4 in Tourette syndrome. Annals of Neurology, 76(2), 310-315.