Contribution of autosomal rare and de novo variants to sex differences in autism.

ABSTRACT: Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosomal rare variants, we evaluated sex differences in effect size of damaging protein-truncating and missense variants on autism predisposition in 47,061 autistic individuals using a liability model with differing thresholds. Given the sex differences in the rates of cognitive impairment among autistic individuals, we also compared effect sizes of rare variants between individuals with and without cognitive impairment or motor delay. Although these variants mediated different likelihoods of autism with versus without cognitive or motor difficulties, their effect sizes on the liability scale did not differ significantly by sex exome wide or in gen

SUBMITTER: Koko M 

PROVIDER: S-EPMC11947420 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature