Description
Chiara Auwerx will discuss the role of individual CNVs and the total CNV burden on modulating over 50 medically relevant complex trait in the UK Biobank. Results of the study expose the pleiotropy and polygenicity of CNVs and highlight the complex and nuanced role of this mutational class at odds with the classical dichotomy between common diseases and Mendelian disorders.
Overview
- Call CNVs from genotyping microarray data in the UK Biobank.
- Perform CNV-GWAS between the copy number state of CNV-proxy probes and 57 medically relevant complex traits.
- Identify 131 independent CNV-trait associations across 47 phenotypes.
- CNVs signals colocalize with SNP-GWAS signals and Mendelian disorder loci.
- Total CNV burden negatively impacts health, socio-economic status, and longevity.
- Data suggest a polygenic CNV architecture for many assessed traits.
