[article] 
inMolecular Autism > (May 2015) . - p.1-10

Titre :	The female protective effect in autism spectrum disorder is not mediated by a single genetic locus
Type de document :	Texte imprimé et/ou numérique
Auteurs :	Jake GOCKLEY, Auteur ; A. Jeremy WILLSEY, Auteur ; Shan DONG, Auteur ; Joseph D. DOUGHERTY, Auteur ; John N. CONSTANTINO, Auteur ; Stephan J. SANDERS, Auteur
Article en page(s) :	p.1-10
Langues :	Anglais (eng)
Index. décimale :	PER Périodiques
Résumé :	A 4:1 male to female sex bias has consistently been observed in autism spectrum disorder (ASD). Epidemiological and genetic studies suggest a female protective effect (FPE) may account for part of this bias; however, the mechanism of such protection is unknown. Quantitative assessment of ASD symptoms using the Social Responsiveness Scale (SRS) shows a bimodal distribution unique to females in multiplex families. This leads to the hypothesis that a single, common genetic locus on chromosome X might mediate the FPE and produce the ASD sex bias. Such a locus would represent a major therapeutic target and is likely to have been missed by conventional genome-wide association study (GWAS) analysis.
En ligne :	http://dx.doi.org/10.1186/s13229-015-0014-3
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

[article] The female protective effect in autism spectrum disorder is not mediated by a single genetic locus [Texte imprimé et/ou numérique] / Jake GOCKLEY, Auteur ; A. Jeremy WILLSEY, Auteur ; Shan DONG, Auteur ; Joseph D. DOUGHERTY, Auteur ; John N. CONSTANTINO, Auteur ; Stephan J. SANDERS, Auteur . - p.1-10.
Langues : Anglais (eng)
in Molecular Autism > (May 2015) . - p.1-10

Index. décimale :	PER Périodiques
Résumé :	A 4:1 male to female sex bias has consistently been observed in autism spectrum disorder (ASD). Epidemiological and genetic studies suggest a female protective effect (FPE) may account for part of this bias; however, the mechanism of such protection is unknown. Quantitative assessment of ASD symptoms using the Social Responsiveness Scale (SRS) shows a bimodal distribution unique to females in multiplex families. This leads to the hypothesis that a single, common genetic locus on chromosome X might mediate the FPE and produce the ASD sex bias. Such a locus would represent a major therapeutic target and is likely to have been missed by conventional genome-wide association study (GWAS) analysis.
En ligne :	http://dx.doi.org/10.1186/s13229-015-0014-3
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277