Details

Autor(en) / Beteiligte

• Chang, Shun-Chiao
• Pauls, David L.
• Lange, Christoph
• Sasanfar, Roksana
• Santangelo, Susan L.

Titel

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

Ist Teil von

• American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-03, Vol.156B (2), p.233-239

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2011

Quelle

Wiley Online Library Journals Frontfile Complete

Beschreibungen/Notizen

• 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.