[article]
| Titre : |
AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Bernard CRESPI, Auteur ; Silven READ, Auteur ; Amy LY, Auteur ; Peter HURD, Auteur |
| Année de publication : |
2019 |
| Article en page(s) : |
6 p. |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences inthe expression of autism-associated traits found in typical populations. 'e theory is supported by extensive phenotypicevidence, but no genes have yet been described with properties that fit its predictions. 'e autophagy-associated geneAMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differentialexpression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. Wegenotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expressionof autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase inscore for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typicalpopulations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associatedphenotype. 'ese findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects canmediate aspects of risk for autism. |
| En ligne : |
https://doi.org/10.1155/2019/1968580 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 |
in Autism Research and Treatment > 2019 (2019) . - 6 p.
[article] AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism [Texte imprimé et/ou numérique] / Bernard CRESPI, Auteur ; Silven READ, Auteur ; Amy LY, Auteur ; Peter HURD, Auteur . - 2019 . - 6 p. Langues : Anglais ( eng) in Autism Research and Treatment > 2019 (2019) . - 6 p.
| Index. décimale : |
PER Périodiques |
| Résumé : |
The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences inthe expression of autism-associated traits found in typical populations. 'e theory is supported by extensive phenotypicevidence, but no genes have yet been described with properties that fit its predictions. 'e autophagy-associated geneAMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differentialexpression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. Wegenotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expressionof autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase inscore for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typicalpopulations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associatedphenotype. 'ese findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects canmediate aspects of risk for autism. |
| En ligne : |
https://doi.org/10.1155/2019/1968580 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 |
|
AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism in Autism Research and Treatment, 2019 (2019)
