Heart failure & cardiomyopathies

Predicted Deleterious Variants in Cardiomyopathy Genes Prognosticate Mortality and Composite Outcomes in the UK Biobank

JACC Heart FailPublished Cohort study

Main finding · All-cause mortalityResult — go to the resultHazard ratio 1.13 95% CI 1.01–1.25

Authors' conclusion

Adults with predicted deleterious variants in cardiomyopathy-associated genes exhibited a slightly higher risk of mortality and a significantly increased risk of developing cardiomyopathy, and cardiomyopathy-related composite outcomes, in comparison with genotype-negative controls.

Study context

Population
UK Biobank participants with whole exome sequencing data
Participants
200,619 participants
Exposure
CMP-G+ vs CMP-G-
  • CMP-G+n = 5,292
Outcome
All-cause mortality
Methodological detailspopulation-based, whole exome sequencing
  • Population-based
  • Whole exome sequencing

Main finding

As reported in the abstract

Hazard ratio

1.13

95% CI 1.01–1.25

P = 0.027

CMP-G+vs CMP-G-
HR 1.13 (95% CI 1.01–1.25); P = 0.027

Observational data: associations, not effects.

Secondary outcomes

OutcomeHR (95% CI)P value
Diagnosis of cardiomyopathyAdjusted for age and sex · consistent across all cardiomyopathy subgroups5.75 (4.58–7.23)P < 0.0001
Composite of cardiomyopathy diagnosis, HF, arrhythmia, stroke and deathAdjusted for age and sex · consistent across all cardiomyopathy subgroups1.29 (1.20–1.39)P < 0.0001

Original publication

Predicted Deleterious Variants in Cardiomyopathy Genes Prognosticate Mortality and Composite Outcomes in the UK Biobank. JACC Heart Fail. Published 13 September 2023. doi:10.1016/j.jchf.2023.07.023

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