Genetic association signal near NTN4 in Tourette syndrome. Issue 2 (21st July 2014)

• Record Type: Journal Article
• Authors: 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.;
• Is Part Of: Annals of neurology. Volume 76:Issue 2(2014:Aug.)
• Page Start: 310
• Page End: 315
• Publication Date: 2014-07-21
• Subjects: Neurology -- Periodicals; Pediatric neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; 616.8
• DOI: 10.1002/ana.24215
• Languages: English
• ISSNs: 0364-5134

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Tourette syndrome (TS) is a neurodevelopmental disorder with a complex genetic etiology. Through an international collaboration, we genotyped 42 single nucleotide polymorphisms (<italic>p</italic> &lt; 10⁻³) from the recent TS genomewide association study (GWAS) in 609 independent cases and 610 ancestry‐matched controls. Only rs2060546 on chromosome 12q22 (<italic>p</italic> = 3.3 × 10⁻⁴) remained significant after Bonferroni correction. Meta‐analysis with the original GWAS yielded the strongest association to date (<italic>p</italic> = 5.8 × 10⁻⁷). Although its functional significance is unclear, rs2060546 lies closest to <italic>NTN4</italic>, an axon guidance molecule expressed in developing striatum. Risk score analysis significantly predicted case–control status (<italic>p</italic> = 0.042), suggesting that many of these variants are true TS risk alleles. Ann Neurol 2014;76:310–315</p> </abstract>