Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.

ABSTRACT: The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the feasibility of extracting biological insights from a very large region of the genome and leverage this strategy to study the genetic influences on autism. Using a new statistical approach, we identified the 33-Mb p-arm of chromosome 16 (16p) as harboring the greatest excess of autism's common polygenic influences. The region also includes the mechanistically cryptic and autism-associated 16p11.2 copy number variant. Analysis of RNA-sequencing data revealed that both the common polygenic influences within 16p and the 16p11.2 deletion were associated with decreased average

SUBMITTER: Weiner DJ 

PROVIDER: S-EPMC9649437 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature