rs12444589 - CFDP1

Magnitude 2.2 · 1 study on file

Reported associations

• Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum. - Nature genetics (2025) · Lee DSM, Cardone KM, Zhang DY, Tsao NL, Abramowitz S, Sharma P, DePaolo JS, Conery M, Aragam KG, Biddinger K, Dikilitas O, Hoffman-Andrews L, Judy RL, Khan A, Kullo IJ, Puckelwartz MJ, Reza N, Satterfield BA, Singhal P, Arany Z, Cappola TP, Carruth ED, Day SM, Do R, Haggerty CM, Joseph J, McNally EM, Nadkarni G, Owens AT, Rader DJ, Ritchie MD, Sun YV, Voight BF, Levin MG, Damrauer SM · PubMed 40195560

  Heart failure is a complex trait, influenced by environmental and genetic factors, affecting over 30 million individuals worldwide. Here we report common-variant and rare-variant association studies of all-cause heart failure and examine how different classes of genetic variation impact its heritability. We identify 176 common-variant risk loci at genome-wide significance in 2,358,556 individuals and cluster these signals into five broad modules based on pleiotropic associations with anthropomorphic traits/obesity, blood pressure/renal function, atherosclerosis/lipids, immune activity and arrhythmias. In parallel, we uncover exome-wide significant associations for heart failure and rare predicted loss-of-function variants in TTN, MYBPC3, FLNC and BAG3 using exome sequencing of 376,334 indi

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