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Original research article
Genomic ancestry as a predictor of haemodynamic profile in heart failure
  1. Sabrina Bernardez-Pereira1,2,
  2. Luciana Gioli-Pereira2,
  3. Fabiana G Marcondes-Braga2,
  4. Paulo Caleb Junior Lima Santos2,
  5. Joceli Mabel Rocha Spina2,
  6. Andréa Roseli Vançan Russo Horimoto2,
  7. Hadassa Campos Santos2,
  8. Fernando Bacal2,
  9. Fábio Fernandes2,
  10. Alfredo Jose Mansur2,
  11. Ricardo Pietrobon3,
  12. José Eduardo Krieger2,
  13. Evandro Tinoco Mesquita1 and
  14. Alexandre Costa Pereira2
  1. 1Fluminense Federal University, Niteroi, Rio de Janeiro, Brazil
  2. 2Heart Institute, University of São Paulo Medical School, Sao Paulo, Brazil
  3. 3University of California, San Francisco, California, USA
  1. Correspondence to Dr Sabrina Bernardez-Pereira; bernardezsabrina{at}gmail.com

Abstract

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.

  • HEART FAILURE

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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