Summary statistics are available for download from the GWAS Catalog.
Publication
Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum.
Lee DSM, Cardone KM, Zhang DY, et al.
medRxiv. 2023 Jul 16. doi: 10.1101/2023.07.16.23292724.
PMID: 37503172
Phenotypes
- Heart failure
Experiment summary
This study conducted multi-ancestry GWAS meta-analysis on 207346 heart failure cases and 2151210 controls and combined with with exome-based rare-variant burden testing for all-cause heart failure, identifying ~176 common-variant risk loci and exome-wide associations in Mendelian cardiomyopathy genes (e.g., TTN, MYBPC3, FLNC, BAG3). The results show concentrated rare-variant burden heritability in cardiomyopathy genes versus diffuse common-variant heritability, and demonstrate that polygenic background modifies heart failure risk among carriers of pathogenic truncating variants (e.g., TTN).