The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.

ABSTRACT:

Background

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.

Methods

To explore this possibility, we performed an association study i

SUBMITTER: Gockley J 

PROVIDER: S-EPMC4429476 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature