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Mendelian Randomization Study Reveals Causal Pathways for Hypertrophic Cardiomyopathy, Cardiovascular Proteins, and

Yifei Zhang1, Chenyuan Guo1, Lanxin Wang1

  • 1The Cardiology Department of Shanxi Provincial People's Hospital, Shanxi Medical University, Taiyuan, Shanxi, China.

British Journal of Hospital Medicine (London, England : 2005)
|January 25, 2025
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) may increase the risk of developing atrial fibrillation (AF). Melusin protein acts as a protective mediator in this cardiovascular disease relationship.

Area of Science:

  • Cardiology
  • Genetics
  • Epidemiology

Background:

  • A significant association exists between hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF).
  • The causal relationship and underlying mechanisms between HCM and AF require further investigation.
  • Cardiovascular proteins (CPs) may play a role in the interplay between HCM and AF.

Purpose of the Study:

  • To investigate the causal relationship between hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF) using Mendelian randomization (MR).
  • To assess the mediating role of cardiovascular proteins (CPs) in the association between HCM and AF through a two-step MR analysis.

Main Methods:

  • Employed a two-sample and bidirectional Mendelian randomization (MR) approach.
  • Utilized data from FinnGen and IEU Open GWAS Project for HCM, AF, and 90 CPs.
  • Applied MR-Egger, inverse variance weighting (IVW), and weighted median estimator (WME) for causal inference, alongside mediation analysis for CPs.

Main Results:

  • Bidirectional MR indicated HCM as a risk factor for AF (OR=1.008, p=0.029).
  • Five CPs were causally linked to HCM, 12 to AF, and Melusin to both.
  • Melusin demonstrated a protective effect and acted as a mediator between HCM and AF (mediation ratio 5.5178%).

Conclusions:

  • Hypertrophic cardiomyopathy (HCM) may elevate the risk of developing atrial fibrillation (AF).
  • Melusin protein is identified as a potential mediator in the causal pathway between HCM and AF.
  • These findings contribute to understanding the complex relationship between these cardiovascular conditions.

Keywords:
Mendelian randomizationatrial fibrillationcardiovascular proteinhypertrophic cardiomyopathymediation effect

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