How to Cite this Article: Chang S-C, Pauls DL, Lange C, Sasanfar R, Santangelo SL. 2011. Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders. Am J Med Genet Part B 156:233–239.
Brief Research Communication
Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders†
Article first published online: 16 DEC 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 156, Issue 2, pages 233–239, March 2011
How to Cite
Chang, S.-C., Pauls, D. L., Lange, C., Sasanfar, R. and Santangelo, S. L. (2011), Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders. Am. J. Med. Genet., 156: 233–239. doi: 10.1002/ajmg.b.31148
- Issue published online: 8 FEB 2011
- Article first published online: 16 DEC 2010
- Manuscript Accepted: 26 OCT 2010
- Manuscript Received: 20 APR 2010
- National Alliance for Autism Research Pre-Doctoral Mentor-based Training Fellowship
- autism spectrum disorder;
- genetic association;
- candidate gene study;
- DLX homeobox;
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. © 2010 Wiley-Liss, Inc.