Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure
oleh: Marios Arvanitis, Emmanouil Tampakakis, Yanxiao Zhang, Wei Wang, Adam Auton, 23andMe Research Team, Diptavo Dutta, Stephanie Glavaris, Ali Keramati, Nilanjan Chatterjee, Neil C. Chi, Bing Ren, Wendy S. Post, Alexis Battle
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2020-02-01 |
Deskripsi
Heart failure has a heterogeneous etiology and the genetic underpinnings are not well understood. Here, Arvanitis et al. perform GWAS meta-analysis including 10,976 heart failure cases and 437,573 controls, identify new loci near ABO and ACTN2 and show that deletion of a ACTN2 enhancer leads to reduced ACTN2 expression in differentiating cardiomyocytes.