Examining the role of common variants in rare neurodevelopmental conditions.

ABSTRACT: Although rare neurodevelopmental conditions have a large Mendelian component¹, common genetic variants also contribute to risk^2,3. However, little is known about how this polygenic risk is distributed among patients with these conditions and their parents nor its interplay with rare variants. It is also unclear whether polygenic background affects risk directly through alleles transmitted from parents to children, or whether indirect genetic effects mediated through the family environment⁴ also play a role. Here we addressed these questions using genetic data from 11,573 patients with rare neurodevelopmental conditions, 9,128 of their parents and 26,869 controls. Common variants explained around 10% of variance in risk. Patients with a monogenic diagnosis h

SUBMITTER: Huang QQ 

PROVIDER: S-EPMC11634775 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature