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AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism
Joint Authors
Crespi, Bernard
Read, Silven
Ly, Amy
Hurd, Peter
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-10-10
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences in the expression of autism-associated traits found in typical populations.
The theory is supported by extensive phenotypic evidence, but no genes have yet been described with properties that fit its predictions.
The autophagy-associated gene AMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differential expression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females.
We genotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expression of autistic and schizotypal traits.
Females, but not males, homozygous for the GG genotype showed a significant increase in score for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typical populations.
As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associated phenotype.
These findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects can mediate aspects of risk for autism.
American Psychological Association (APA)
Crespi, Bernard& Read, Silven& Ly, Amy& Hurd, Peter. 2019. AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism. Autism Research and Treatment،Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1122425
Modern Language Association (MLA)
Crespi, Bernard…[et al.]. AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism. Autism Research and Treatment No. 2019 (2019), pp.1-6.
https://search.emarefa.net/detail/BIM-1122425
American Medical Association (AMA)
Crespi, Bernard& Read, Silven& Ly, Amy& Hurd, Peter. AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism. Autism Research and Treatment. 2019. Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1122425
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1122425