rs10925197 - ACTN2

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic and phenotypic profiling of supranormal ejection fraction reveals decreased survival and underdiagnosed heart failure - Unknown journal (n.d.) · Unknown authors · PubMed 35278270

  ABSTRACT: Aims Individuals with supranormal left ventricular ejection fraction (snLVEF; LVEF>70%) have increased mortality. However, the genetic and phenotypic profile of snLVEF remains unknown. This study aimed to determine the relationship of both snLVEF genetic risk and phenotype with survival and underdiagnosed heart failure (HF). Methods and Results A snLVEF genetic risk score (GRS) was applied and cases of snLVEF were identified in 486,754 individuals across two population-based cohorts (BioMe Biobank and UK Biobank). The snLVEF GRS and phenotype were evaluated for association with survival, as well as HF diagnosis, markers, symptoms, and medications. Of 486,754 participants, the median age was 58 years, 20,069 (4.1%) died, and 10,043 (2.1%) had diagnosed HF. Both snLVEF GRS (hazard

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