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GWAS Study

Deep learning-derived cardiovascular age shares a genetic basis with other cardiac phenotypes.

Libiseller-Egger J, Phelan JE, Attia ZI et al.

36587059 PubMed ID
GWAS Study Type
34432 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

LJ
Libiseller-Egger J
PJ
Phelan JE
AZ
Attia ZI
BE
Benavente ED
CS
Campino S
FP
Friedman PA
LF
Lopez-Jimenez F
LD
Leon DA
CT
Clark TG
Chapter II

Abstract

Summary of the research findings

Artificial intelligence (AI)-based approaches can now use electrocardiograms (ECGs) to provide expert-level performance in detecting heart abnormalities and diagnosing disease. Additionally, patient age predicted from ECGs by AI models has shown great potential as a biomarker for cardiovascular age, where recent work has found its deviation from chronological age ("delta age") to be associated with mortality and co-morbidities. However, despite being crucial for understanding underlying individual risk, the genetic underpinning of delta age is unknown. In this work we performed a genome-wide association study using UK Biobank data (n=34,432) and identified eight loci associated with delta age ([Formula: see text]), including genes linked to cardiovascular disease (CVD) (e.g. SCN5A) and (heart) muscle development (e.g. TTN). Our results indicate that the genetic basis of cardiovascular ageing is predominantly determined by genes directly involved with the cardiovascular system rather than those connected to more general mechanisms of ageing. Our insights inform the epidemiology of CVD, with implications for preventative and precision medicine.

34,432 European or unknown ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

34432
Total Participants
GWAS
Study Type
No
Replicated
European, NR
Ancestry
U.K.
Recruitment Country
Chapter IV

AI-Generated Summary

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