How rare and common risk variation jointly affect liability for autism spectrum disorder.

ABSTRACT:

Background

Genetic studies have implicated rare and common variations in liability for autism spectrum disorder (ASD). Of the discovered risk variants, those rare in the population invariably have large impact on liability, while common variants have small effects. Yet, collectively, common risk variants account for the majority of population-level variability. How these rare and common risk variants jointly affect liability for individuals requires further study.

Methods

To explore how common and rare variants jointly affect liability, we assessed two cohorts of ASD families characterized for rare and common genetic variations (Simons Simplex Collection and Population-Based Autism Genetics and Environment Study). We analyzed data from 3011 affected subjects, as well as two

SUBMITTER: Klei L 

PROVIDER: S-EPMC8495987 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature