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Assessment of Right Ventricular Structure and Function in Mouse Model of Pulmonary Artery Constriction by Transthoracic Echocardiography
Published on: February 3, 2014
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Sex-Specific Genetic Determinants of Right Ventricular Structure and Function
Lars Harbaum1,2, Jan K Hennigs1, Julian Pott1
1Division of Respiratory Medicine, Department of Internal Medicine II, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
American Journal of Respiratory and Critical Care Medicine
|October 7, 2024
Summary
Genetic variation influences right ventricle (RV) function differently in women and men. The BMPR1A gene is a key factor in female RV function, particularly in pulmonary arterial hypertension (PAH).
Area of Science:
- Cardiovascular Genetics
- Sex Differences in Health
- Right Heart Physiology
Background:
- Observed sex differences in right heart phenotypes lack identified molecular drivers.
- Understanding genetic contributions to sex-specific right ventricular (RV) structure and function is crucial.
Purpose of the Study:
- To investigate biological insights into sex differences in right ventricle (RV) structure and function.
- To utilize common genetic variation to explain observed sex-based disparities in RV phenotypes.
Main Methods:
- Cardiac magnetic resonance imaging (CMR) data from UK Biobank (18,156 women, 16,171 men) were analyzed.
- Sex-stratified genome-wide association studies (GWAS) identified genetic loci.
- Candidate female-specific loci were validated in female patients with pulmonary arterial hypertension (PAH).
Main Results:
- Significant sex-associated differences in RV volumes and ejection fraction were observed, independent of other factors.
- Six genome-wide significant loci showed sex-by-genotype interaction, with two loci specific to women.
- A locus near BMPR1A was associated with RV ejection fraction in women and cardiac index in female PAH patients.
Conclusions:
- BMPR1A is a strong candidate gene for female-specific genetic determination of RV function.
- BMPR1A variants are associated with cardiac performance in female PAH patients, suggesting a role in disease pathophysiology.
- Genetic insights into sex differences in RV function can inform targeted cardiovascular research.
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