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

Authors

  • Shun-Chiao Chang,

    1. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts
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  • David L. Pauls,

    1. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts
    2. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts
    3. Department of Psychiatry, Harvard Medical School, Boston, Massachusetts
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  • Christoph Lange,

    1. Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts
    2. Channing Laboratories, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts
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  • Roksana Sasanfar,

    1. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Harvard Medical School, Boston, Massachusetts
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  • Susan L. Santangelo

    Corresponding author
    1. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts
    2. Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts
    3. Department of Psychiatry, Harvard Medical School, Boston, Massachusetts
    • Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, MGH Simches Research Building 185 Cambridge St, CPZN 6-256, Boston, MA 02114.
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  • 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.

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. © 2010 Wiley-Liss, Inc.

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