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Published on: June 10, 2025
Genomic ancestry as a predictor of haemodynamic profile in heart failure
Sabrina Bernardez-Pereira1, Luciana Gioli-Pereira2, Fabiana G Marcondes-Braga2
1Fluminense Federal University, Niteroi, Rio de Janeiro, Brazil; Heart Institute, University of São Paulo Medical School, Sao Paulo, Brazil.
Insights
Genetic ancestry, not self-declared race, impacts heart failure (HF) hemodynamics. African ancestry links to worse diastolic function, while Amerindian ancestry correlates with impaired ventricular contractility in HF patients.
Area of Science:
- Cardiology
- Genetics
- Physiology
Background:
- Chronic heart failure (HF) is a complex condition with diverse patient profiles.
- Understanding the influence of genetic and demographic factors on HF pathophysiology is crucial for personalized medicine.
Purpose of the Study:
- To investigate the association between genetic ancestry, self-declared race, and hemodynamic parameters in patients with chronic heart failure (HF).
Main Methods:
- Cross-sectional study of 362 HF patients (aged 18-80, ejection fraction ≤50%).
- Genetic analysis of ancestry informative markers and estimation of genomic ancestry (European, African, Native American).
- Echocardiography and impedance cardiography (ICG) for hemodynamic assessment; race self-classified as white or non-white.
Main Results:
- No significant differences in ICG parameters based on self-declared race.
- Amerindian ancestry correlated positively with systolic time ratio (r=0.109, p<0.05).
- African ancestry showed positive correlations with thoracic fluid content index (r=0.124, p<0.05), E wave peak (r=0.127, p<0.05), and E/e' ratio (r=0.197, p<0.01).
- African ancestry remained associated with the E/e' ratio in multivariate analysis.
Conclusions:
- African genetic ancestry is linked to poorer diastolic function parameters in HF.
- Amerindian ancestry correlates with an impaired ventricular contractility pattern.
- Self-declared race is insufficient for predicting hemodynamic profiles in HF patients.
Objective:
The aim of this study is to assess the association between genetic ancestry, self-declared race and haemodynamic parameters in patients with chronic heart failure (HF).
Methods:
Observational, cross-sectional study. Eligible participants were aged between 18 and 80 years; ejection fraction was ≤50%. Patients underwent genetic analysis of ancestry informative markers, echocardiography and impedance cardiography (ICG). Race was determined by self-classification into two groups: white and non-white. Genomic ancestry was estimated using a panel of 101 348 polymorphic markers and three continental reference populations (European, African and Native American).
Results:
Our study included 362 patients with HF between August 2012 and August 2014. 123 patients with HF declared themselves as white and 234 patients declared themselves as non-white. No statistically significant differences were found regarding the ICG parameters according to self-declared race. The Amerindian ancestry was positively correlated with systolic time ratio (r=0.109, p<0.05). The thoracic fluid content index (r=0.124. p<0.05), E wave peak (r=0.127. p<0.05) and E/e' ratio (r=0.197. p<0.01) were correlated positively with African ancestry. In multiple linear regression, African ancestry remained associated with the E/e' ratio, even after adjustment to risk factors.
Conclusions:
The African genetic ancestry was associated with worse parameters of diastolic function; the Amerindian ancestry correlated with a worse pattern of ventricular contractility, while self-declared colour was not helpful to infer haemodynamic profiles in HF.
Trials Registration Number:
NTC02043431.
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