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• W2979296923 abstract "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." @default.
• W2979296923 created "2019-10-18" @default.
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• W2979296923 date "2019-10-10" @default.
• W2979296923 modified "2023-09-26" @default.
• W2979296923 title "AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism" @default.
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• W2979296923 doi "https://doi.org/10.1155/2019/1968580" @default.
• W2979296923 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6811796" @default.
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