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A Proposed Genetic Risk Score for Dilated Cardiomyopathy Susceptibility in the Chinese Han Population

Jianjun Lan1, Lin Wang2, Guoyuan Qiu3

  • 1Division of Cardiology, Panzhihua Central Hospital, Panzhihua, China.

Texas Heart Institute Journal
|May 20, 2025
PubMed

Insights

A new genetic risk score effectively identifies individuals at high risk for dilated cardiomyopathy (DCM). This tool, based on 5 variants, aids in early prevention strategies for DCM susceptibility.

Area of Science:

  • Cardiology
  • Genetics
  • Precision Medicine

Background:

  • Dilated cardiomyopathy (DCM) is a prevalent cardiac condition.
  • Genetic predisposition plays a significant role in DCM development.
  • Identifying individuals at high genetic risk is crucial for early intervention.

Purpose of the Study:

  • To develop and validate a genetic risk score for predicting individual susceptibility to dilated cardiomyopathy.
  • To assess the predictive power of the genetic risk score in a large patient cohort.
  • To evaluate the potential clinical utility of the genetic risk score for early DCM prevention.

Main Methods:

  • Whole-exome sequencing data from 1,000 DCM patients and 828 controls were analyzed.
  • Logistic analysis identified statistically significant variants for genetic risk score construction.
  • Receiver operating characteristic curve analysis evaluated the predictive power of the genetic risk score.

Main Results:

  • A genetic risk score comprising 5 variants was developed.
  • A score of ≥6.4 significantly increased DCM risk (OR, 2.54; P < .001), independent of traditional risk factors.
  • Higher genetic risk scores correlated with reduced left ventricular ejection fraction and increased end-diastolic diameter.

Conclusions:

  • The 5-variant genetic risk score effectively identifies individuals at high risk for DCM.
  • This genetic risk score demonstrates excellent discriminant power (C statistic of 0.72).
  • The score can aid in implementing early prevention strategies for DCM in clinical practice.
Abstract

Keywords:
Cardiomyopathy, dilatedgenetic risk scoreprediction algorithmsrisk

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