Imperial College London
Dr Catherine Francis

DrCatherineFrancis

Faculty of Medicine, National Heart & Lung Institute

Honorary Clinical Research Fellow
 
 
 
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Contact

 

c.francis12

 
 
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Location

 

Sydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Francis:2022:10.1038/s41467-022-32219-x,
author = {Francis, C and Futschik, M and Huang, J and Bai, W and Sargurupremraj, M and Teumer, A and Breteler, M and Petretto, E and SR, HO A and Amouyel, P and Engelter, S and Bülow, R and Völker, U and Völzke, H and Dörr, M and Imtiaz, M-A and Aziz, A and Lohner, V and Ware, J and Debette, S and Elliott, P and Dehghan, A and Matthews, P},
doi = {10.1038/s41467-022-32219-x},
journal = {Nature Communications},
title = {Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities},
url = {http://dx.doi.org/10.1038/s41467-022-32219-x},
volume = {13},
year = {2022}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Aortic dimensions and distensibility are key risk factors for aortic aneurysms and dissections, as well as for other cardiovascular and cerebrovascular diseases. We present genome-wide associations of ascending and descending aortic distensibility and area derived from cardiac magnetic resonance imaging (MRI) data of up to 32,590 Caucasian individuals in UK Biobank. We identify 102 loci (including 27 novel associations) tagging genes related to cardiovascular development, extracellular matrix production, smooth muscle cell contraction and heritable aortic diseases. Functional analyses highlight four signalling pathways associated with aortic distensibility (TGF-, IGF, VEGF and PDGF). We identify distinct sex-specific associations with aortic traits. We develop co-expression networks associated with aortic traits and apply phenome-wide Mendelian randomization (MR-PheWAS), generating evidence for a causal role for aortic distensibility in development of aortic aneurysms. Multivariable MR suggests a causal relationship between aortic distensibility and cerebral white matter hyperintensities, mechanistically linking aortic traits and brain small vessel disease.
AU  - Francis,C
AU  - Futschik,M
AU  - Huang,J
AU  - Bai,W
AU  - Sargurupremraj,M
AU  - Teumer,A
AU  - Breteler,M
AU  - Petretto,E
AU  - SR,HO A
AU  - Amouyel,P
AU  - Engelter,S
AU  - Bülow,R
AU  - Völker,U
AU  - Völzke,H
AU  - Dörr,M
AU  - Imtiaz,M-A
AU  - Aziz,A
AU  - Lohner,V
AU  - Ware,J
AU  - Debette,S
AU  - Elliott,P
AU  - Dehghan,A
AU  - Matthews,P
DO  - 10.1038/s41467-022-32219-x
PY  - 2022///
SN  - 2041-1723
TI  - Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/s41467-022-32219-x
UR  - http://hdl.handle.net/10044/1/98643
VL  - 13
ER  -
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