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Ann Neurol ; 76(2): 310-5, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25042818

RESUMEN

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.


Asunto(s)
Estudio de Asociación del Genoma Completo/estadística & datos numéricos , Factores de Crecimiento Nervioso/genética , Síndrome de Tourette/genética , Adulto , Estudios de Casos y Controles , Humanos , Netrinas , Polimorfismo de Nucleótido Simple/genética
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