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Genetic association signal near NTN4 in Tourette syndrome
Authors: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  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. Ann Neurol 2014;76:310–315
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