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Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders
American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-03, Vol.156B (2), p.233-239
Chang, Shun-Chiao
Pauls, David L.
Lange, Christoph
Sasanfar, Roksana
Santangelo, Susan L.
2011
Volltextzugriff (PDF)
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.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4841, 1552-485X
eISSN: 1552-485X
DOI: 10.1002/ajmg.b.31148
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3088769
Format
–
Schlagworte
Autism
,
autism spectrum disorder
,
Biological and medical sciences
,
candidate gene study
,
Child
,
Child clinical studies
,
Child Development Disorders, Pervasive - genetics
,
Developmental disorders
,
DLX homeobox
,
Etiology
,
Family
,
GAD1
,
GAD1 gene
,
Genes, Homeobox
,
genetic association
,
Genetic diversity
,
Glutamate Decarboxylase - genetics
,
Haplotypes
,
Homeobox
,
Homeodomain Proteins - genetics
,
Humans
,
Infantile autism
,
Medical genetics
,
Medical sciences
,
Polymorphism, Single Nucleotide
,
Promoters
,
Psychology. Psychoanalysis. Psychiatry
,
Psychopathology. Psychiatry
,
Risk factors
,
Single-nucleotide polymorphism
,
Transcription Factors - genetics
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