Mapping rare protein-coding variants on multi-organ imaging traits.

ABSTRACT: Human organ structure and function are important endophenotypes for clinical outcomes. Genome-wide association studies (GWAS) have identified numerous common variants associated with phenotypes derived from magnetic resonance imaging (MRI) of the brain and body. However, the role of rare protein-coding variations affecting organ size and function is largely unknown. Here we present an exome-wide association study that evaluates 596 multi-organ MRI traits across over 50,000 individuals from the UK Biobank. We identified 107 variant-level associations and 224 gene-based burden associations (67 unique gene-trait pairs) across all MRI modalities, including PTEN with total brain volume, TTN with regional peak circumferential strain in the heart left ventricle, and TNFRSF13B

SUBMITTER: Fan Y 

PROVIDER: S-EPMC11601754 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature