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  4. Genetic landscape of the ACE2 coronavirus receptor.
 
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Genetic landscape of the ACE2 coronavirus receptor.
File(s)
CIRCULATIONAHA.121.057888.pdf (1.35 MB)
Published version
Author(s)
Yang, Zhijian
MacDonald-Dunlop, Erin
Chen, Jiantao
Zhai, Ranran
Li, Ting
more
Type
Journal Article
Abstract
Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the etiologic agent of COVID-19, enters human cells using the angiotensin-converting enzyme 2 (ACE2) protein as a receptor. ACE2 is thus key to the infection and treatment of the coronavirus. ACE2 is highly expressed in the heart, respiratory and gastrointestinal tracts, playing important regulatory roles in the cardiovascular and other biologic systems. However, the genetic basis of the ACE2 protein levels is not well understood. Methods: We conduct so far the largest genome-wide association meta-analysis of plasma ACE2 levels in over 28,000 individuals of the SCALLOP Consortium. We summarize the cross-sectional epidemiologic correlates of circulating ACE2. Using the summary-statistics-based high-definition likelihood method, we estimate relevant genetic correlations with cardiometabolic phenotypes, COVID-19, and other human complex traits and diseases. We perform causal inference of soluble ACE2 on vascular disease outcomes and COVID-19 disease severity using Mendelian randomization. We also perform in silico functional analysis by integrating with other types of omics data. Results: We identified ten loci, including eight novel, capturing 30% of the protein's heritability. We detected that plasma ACE2 was genetically correlated with vascular diseases, severe COVID-19, and a wide range of human complex diseases and medications. An X-chromosome cis-pQTL-based Mendelian randomization analysis suggested a causal effect of elevated ACE2 levels on COVID-19 severity (odds ratio (OR), 1.63; 95% CI, 1.10 to 2.42; P = 0.01), hospitalization (OR, 1.52; 95% CI, 1.05 to 2.21; P = 0.03), and infection (OR, 1.60; 95% CI, 1.08 to 2.37; P = 0.02). Tissue- and cell-type-specific transcriptomic and epigenomic analysis revealed that the ACE2 regulatory variants were enriched for DNA methylation sites in blood immune cells. Conclusions: Human plasma ACE2 shares a genetic basis with cardiovascular disease, COVID-19, and other related diseases. The genetic architecture of the ACE2 protein is mapped, providing a useful resource for further biological and clinical studies on this coronavirus receptor.
Date Issued
2022-04-07
Date Acceptance
2022-04-01
Citation
Circulation, 2022, 145 (18), pp.1398-1411
URI
http://hdl.handle.net/10044/1/96467
URL
https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.121.057888
DOI
https://www.dx.doi.org/10.1161/CIRCULATIONAHA.121.057888
ISSN
0009-7322
Publisher
Lippincott, Williams & Wilkins
Start Page
1398
End Page
1411
Journal / Book Title
Circulation
Volume
145
Issue
18
Copyright Statement
© 2022 The Authors. Circulation is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.
License URL
https://creativecommons.org/licenses/by/4.0/
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/35387486
Subjects
Science & Technology
Life Sciences & Biomedicine
Cardiac & Cardiovascular Systems
Peripheral Vascular Disease
Cardiovascular System & Cardiology
angiotensin-converting enzyme 2
Genome-Wide Association Study
cardiovascular diseases
COVID-19
SARS-CoV-2
ANGIOTENSIN-CONVERTING ENZYME
ALPHA-1-ANTITRYPSIN DEFICIENCY
RISK
DATABASE
TRIAL
COVID-19
Genome-Wide Association Study
SARS-CoV-2
angiotensin-converting enzyme 2
cardiovascular diseases
Angiotensin-Converting Enzyme 2
COVID-19
Cross-Sectional Studies
Genome-Wide Association Study
Humans
Receptors, Coronavirus
SARS-CoV-2
GenOMICC Consortium†
IMI-DIRECT Consortium†
Humans
Cross-Sectional Studies
Genome-Wide Association Study
COVID-19
Angiotensin-Converting Enzyme 2
SARS-CoV-2
Receptors, Coronavirus
Cardiovascular System & Hematology
1102 Cardiorespiratory Medicine and Haematology
1103 Clinical Sciences
1117 Public Health and Health Services
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2022-04-07
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