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September 29, 2023Open Access

Genome-wide association analysis reveals insights into the molecular etiology underlying dilated cardiomyopathy

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Why the study?

Clinical testing identifies a genetic cause in only a minority of dilated cardiomyopathy patients, and the common genetic architecture of complex inheritance remains relatively unexplored.

Population

14,255 DCM cases, 1,199,156 controls, and 36,203 participants with cardiac magnetic resonance imaging traits

Comparison

DCM cases vs controls

Design

Genome-wide association study meta-analysis and multi-trait GWAS

Key result

A polygenic score for dilated cardiomyopathy significantly predicted disease risk in the general population (OR 1.76 per standard deviation increase).

Authors

SZSean ZhengAHAlbert HenryDCDouglas Cannie

Discussion

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Overview

May support PGS-based DCM risk stratification in research; leaves open clinical adoption pending prospective validation.

Study Design

Type

Meta-Analysis (n=1,213,411)

Multicenter

Yes

Structured PICO

P
Population
14,255 dilated cardiomyopathy cases and 1,199,156 controls included in a genome-wide association study meta-analysis.
O
Outcome
Genetic susceptibility loci for dilated cardiomyopathy

Main Result

Odds Ratio: 1.76 (95% CI 1.64–1.9)

p-value: p=<2x10-16

This large-scale GWAS meta-analysis identifies 80 genetic susceptibility loci for dilated cardiomyopathy, highlighting novel effector genes and demonstrating the utility of a polygenic risk score for predicting DCM.

Cite This Study

Zheng et al. (2023) conducted a meta-analysis in Dilated cardiomyopathy (n=1,213,411). Polygenic score for dilated cardiomyopathy vs. Lower polygenic score was evaluated on Dilated cardiomyopathy risk per standard deviation increase in polygenic score (OR 1.76, 95% CI 1.64-1.90, p=<2x10-16). A polygenic score for dilated cardiomyopathy significantly predicted disease risk in the general population (OR 1.76 per standard deviation increase).

synapsesocial.com/papers/6a9df08a40aa4c70decdca36https://doi.org/10.1101/2023.09.28.23295408
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