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Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):233-9. doi: 10.1002/ajmg.b.31148. Epub 2010 Dec 16.

Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders.

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  • 1Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.


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.

Copyright © 2010 Wiley-Liss, Inc.

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