Genetic variation in RYR1 is associated with heart failure progression and mortality in a diverse patient population.

ABSTRACT:

Introduction

Heart failure (HF) is a highly prevalent disease affecting roughly 7 million Americans. A transcriptome-wide analysis revealed RYR1 upregulation in HF patients with severe pulmonary hypertension. Therefore, we aimed to further characterize the role of RYR1 in HF progression and mortality.

Methods

In a mouse model of HF, expression of Ryr1 was compared in cardiac pulmonary, and vascular tissue between HF and control mice. Candidate single nucleotide polymorphisms (SNPs) in the RYR1 gene region were identified, including variants affecting RYR1 expression in relevant tissue types. A Cox proportional hazard model was used to analyze genetic associations of candidate SNPs with all-cause mortality in HF patients. An exploratory anal

SUBMITTER: Guerra LA 

PROVIDER: S-EPMC11885062 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature