Article
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Nature genetics - 1 Sept 2022
Antaki Danny, Guevara James, Maihofer Adam X, Klein Marieke, Gujral Madhusudan, Grove Jakob, Carey Caitlin E, Hong Oanh, Arranz Maria J, Hervas Amaia, Corsello Christina, Vaux Keith K, Muotri Alysson R, Iakoucheva Lilia M, Courchesne Eric, Pierce Karen, Gleeson Joseph G, Robinson Elise B, Nievergelt Caroline M, Sebat Jonathan
Abstract excerpt
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consistent with a liability threshold that differs by sex. De novo mutations (DNMs), rare inherited variants and polygenic...
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