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Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders
Author(s) -
Chang ShunChiao,
Pauls David L.,
Lange Christoph,
Sasanfar Roksana,
Santangelo Susan L.
Publication year - 2011
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.31148
Subject(s) - homeobox , genetics , autism , haplotype , gene , biology , candidate gene , etiology , single nucleotide polymorphism , genetic variation , hnf1b , heritability of autism , genetic association , autism spectrum disorder , medicine , genotype , transcription factor , pathology , psychiatry , phenotype
Biological and positional evidence supports the involvement of the GAD1 and distal‐less homeobox genes ( DLX s) 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.