Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Volume 156B, Issue 2, Pages 233-239Publisher
WILEY
DOI: 10.1002/ajmg.b.31148
Keywords
autism spectrum disorder; genetic association; candidate gene study; DLX homeobox; GAD1
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Funding
- National Alliance for Autism Research Pre-Doctoral Mentor-based Training Fellowship
- Autism Speaks
- AGRE consortium
- National Institute of Mental Health [1U24MH081810]
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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. (C) 2010 Wiley-Liss, Inc.
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