Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits.

ABSTRACT: The 16p11.2 and 22q11.2 copy number variants (CNVs) are associated with neurobehavioral traits including autism spectrum disorder (ASD), schizophrenia, bipolar disorder, obesity, and intellectual disability. Identifying specific genes contributing to each disorder and dissecting the architecture of CNV-trait association has been difficult, inspiring hypotheses of more complex models, such as multiple genes acting together. Using multi-tissue data from the GTEx consortium, we generated pairwise expression imputation models for CNV genes and then applied these elastic net models to GWAS for: ASD, bipolar disorder, schizophrenia, BMI (obesity), and IQ (intellectual disability). We compared the variance in these five traits explained by gene pairs with the variance explained by single genes an

SUBMITTER: Vysotskiy M 

PROVIDER: S-EPMC10266672 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature