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April 20, 2023Nature GeneticsOpen Access

Genetics of myocardial interstitial fibrosis in the human heart and association with disease

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Why the study?

Myocardial interstitial fibrosis is linked to cardiovascular disease and adverse prognosis, prompting investigation into the biological pathways underlying fibrosis in the human heart.

What genetic loci and biological pathways are associated with myocardial interstitial fibrosis as measured by native T1 time on cardiac MRI?

Population

41,505 UK Biobank participants who underwent cardiac magnetic resonance imaging

Design

Genome-wide association study using a machine learning model

Authors

VNVictor NauffalPAPaolo Di AchilleMKMarcus D. R. Klarqvist

Discussion

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Overview

Provides genetic loci for T1-derived fibrosis; leaves open causal mechanisms and clinical translation.

Structured PICO

What genetic loci and biological pathways are associated with myocardial interstitial fibrosis as measured by native T1 time on cardiac MRI?

P
Population
41,505 UK Biobank participants who underwent cardiac magnetic resonance imaging
I
Intervention
Machine learning model to measure native myocardial T1 time and genome-wide association analysis
O
Outcome
Native myocardial T1 time and its association with clinical diseases and genetic locisurrogate

Large-scale machine learning quantification of myocardial T1 time identified 11 genetic loci associated with myocardial interstitial fibrosis, revealing new biologically relevant pathways.

Cite This Study

Nauffal et al. (2023) studied this question.

synapsesocial.com/papers/6a85465af76e40547ac2b2f2https://doi.org/10.1038/s41588-023-01371-5
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