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Summary

This study identified X-chromosome genetic variants contributing to heart failure (HF) susceptibility. The X-chromosome wide association study (XWAS) revealed significant loci for HF subtypes, highlighting its role in heart failure pathogenesis.

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Area of Science:

Genetics
Cardiovascular Disease
Genomic Medicine

Background:

Heart failure (HF) is a significant public health concern with a known genetic component.
HF is clinically divided into HF with reduced ejection fraction (HFrEF) and HF with preserved ejection fraction (HFpEF), differing in pathophysiology.
Previous genome-wide association studies (GWAS) largely excluded the X chromosome, leaving X-linked genetic factors for HF understudied.

Purpose of the Study:

To investigate the role of X-chromosome genetic variation in heart failure susceptibility.
To identify X-linked genetic loci associated with all-cause HF and its subtypes (HFrEF and HFpEF).
To characterize sex- and ancestry-specific genetic contributions to HF.

Main Methods:

Conducted an X-chromosome wide association study (XWAS) on 590,568 Million Veteran Program participants (90,694 HF cases).
Employed sex- and ancestry-stratified logistic regression, adjusting for covariates, followed by multi-ancestry meta-analysis.
Performed functional annotation, gene-based testing, fine-mapping, colocalization, and replication in the UK Biobank.

Main Results:

Identified five X-chromosome-wide significant loci for all-cause HF, five for HFrEF, and one for HFpEF in males.
Six loci for all-cause HF and four for HFrEF were identified in sex-combined analyses.
Key genes implicated include BRWD3, FHL1, CHRDL1, NDP, WDR44, and PHF8, with BRWD3 replicated in an independent cohort.

Conclusions:

This multi-ancestry, sex-stratified XWAS reveals significant X-linked genetic contributions to HF and its subtypes.
The findings underscore the importance of the X chromosome in the pathogenesis of heart failure.
The study highlights the need to include X-linked variation in future genetic studies of complex diseases.