Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.

ABSTRACT:

Background

Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum disorder (ASD). The contribution of individual CNV genes to each of these identified phenotypes is unknown, as well as the contribution of these CNV genes to other potentially subtler health implications for carriers. Hypothesizing that DNA copy number exerts most effects via impacts on RNA expression, we attempted a novel in silico fine-mapping approach in non-CNV carriers using both GWAS and biobank data.

Methods

We first asked whether gene expression level in any individual gene in the CNV region alters risk for a known CNV-a

SUBMITTER: Vysotskiy M 

PROVIDER: S-EPMC8557010 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature