Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders.
Am J Med Genet B Neuropsychiatr Genet
; 156(2): 233-9, 2011 Mar.
Article
em En
| MEDLINE
| ID: mdl-21302352
ABSTRACT
Biological and positional evidence supports the involvement of the GAD1 and distal-less homeobox genes (DLXs) in the etiology of autism. We investigated 42 single nucleotide polymorphisms in these genes as risk factors for autism spectrum disorders (ASD) in a large family-based association study of 715 nuclear families. No single marker showed significant association after correction for multiple testing. A rare haplotype in the DLX1 promoter was associated with ASD (P-value = 0.001). Given the importance of rare variants to the etiology of autism revealed in recent studies, the observed rare haplotype may be relevant to future investigations. Our observations, when taken together with previous findings, suggest that common genetic variation in the GAD1 and DLX genes is unlikely to play a critical role in ASD susceptibility.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Transtornos Globais do Desenvolvimento Infantil
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Genes Homeobox
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Proteínas de Homeodomínio
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Polimorfismo de Nucleotídeo Único
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Glutamato Descarboxilase
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Humans
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article