To review the involvement of sex chromosomes in cardiovascular disease (CVD) and their contribution to sex differences in disease susceptibility and outcomes, emphasizing the significance of these differences.
Key Findings:
Mosaic loss of the Y chromosome (mLoY) is linked to CVD, particularly in heart failure, with implications for risk assessment.
mLoY is associated with myocardial fibrosis and cardiac macrophage infiltration via TGF-beta signaling, suggesting potential therapeutic targets.
X chromosome inactivation escape may explain higher expression of certain X-linked genes in females, contributing to sex differences in CVD and warranting further investigation.
Interpretation:
Sex chromosomes play a significant role in cardiovascular health beyond hormonal influences, affecting disease mechanisms and outcomes, and future research should explore these pathways further.
Limitations:
Limited research on the impact of sex chromosomes in human cardiovascular outcomes, with a need for more comprehensive studies.
Challenges in including sex chromosomes in genetic studies due to computational and structural complexities, which may introduce biases.
Conclusion:
Understanding the role of sex chromosomes in CVD is crucial for unraveling the biological mechanisms behind sex differences in disease susceptibility and treatment responses, highlighting the need for integrated research approaches.
