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New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis

BMC medicine, 2020-07, Vol.18 (1), p.216-216, Article 216 [Peer Reviewed Journal]

COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2020 ;ISSN: 1741-7015 ;EISSN: 1741-7015 ;DOI: 10.1186/s12916-020-01673-z ;PMID: 32664879

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Title:
New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis
Author: Hou, Yuan ; Zhao, Junfei ; Martin, William ; Kallianpur, Asha ; Chung, Mina K ; Jehi, Lara ; Sharifi, Nima ; Erzurum, Serpil ; Eng, Charis ; Cheng, Feixiong
Subjects: ACE2 ; African Continental Ancestry Group ; Analysis ; Angiotensin ; Angiotensin II ; Angiotensin-Converting Enzyme 2 ; Angiotensin-converting enzyme 2 (ACE2) ; Angiotensinogen ; Angiotensins ; Betacoronavirus ; Cancer ; Cardiovascular diseases ; Coronavirus ; Coronavirus Infections - ethnology ; Coronavirus Infections - genetics ; Coronaviruses ; Correspondence ; COVID-19 ; Deoxyribonucleic acid ; Disease susceptibility ; DNA ; Enzymes ; Gene mapping ; Gene polymorphism ; Genetic aspects ; Genetic factors ; Genetic polymorphisms ; Genetic Predisposition to Disease ; Genetic susceptibility ; Genetics ; Genetics, Population ; Genomes ; Genomics ; Health aspects ; Health risks ; Humans ; Hydroxychloroquine ; Infections ; Male ; Middle East respiratory syndrome ; Morbidity ; Mortality ; Mutation ; Pandemics ; Peptidyl-Dipeptidase A - genetics ; Pneumonia, Viral - ethnology ; Pneumonia, Viral - genetics ; Polymorphism ; Polymorphism, Genetic ; Population genetics ; Proteins ; Quantitative Trait Loci ; Respiratory diseases ; Risk analysis ; Risk Factors ; Risk groups ; SARS-CoV-2 ; Serine Endopeptidases - genetics ; Severe acute respiratory syndrome ; Severe acute respiratory syndrome coronavirus 2 ; Susceptibility ; TMPRSS2 ; Vaccines ; Viral diseases
Is Part Of: BMC medicine, 2020-07, Vol.18 (1), p.216-216, Article 216
Description: Coronavirus Disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has now been confirmed worldwide. Yet, COVID-19 is strangely and tragically selective. Morbidity and mortality due to COVID19 rise dramatically with age and co-existing health conditions, including cancer and cardiovascular diseases. Human genetic factors may contribute to the extremely high transmissibility of SARS-CoV-2 and to the relentlessly progressive disease observed in a small but significant proportion of infected individuals, but these factors are largely unknown. In this study, we investigated genetic susceptibility to COVID-19 by examining DNA polymorphisms in ACE2 and TMPRSS2 (two key host factors of SARS-CoV-2) from ~ 81,000 human genomes. We found unique genetic susceptibility across different populations in ACE2 and TMPRSS2. Specifically, ACE2 polymorphisms were found to be associated with cardiovascular and pulmonary conditions by altering the angiotensinogen-ACE2 interactions, such as p.Arg514Gly in the African/African-American population. Unique but prevalent polymorphisms (including p.Val160Met (rs12329760), an expression quantitative trait locus (eQTL)) in TMPRSS2, offer potential explanations for differential genetic susceptibility to COVID-19 as well as for risk factors, including those with cancer and the high-risk group of male patients. We further discussed that polymorphisms in ACE2 or TMPRSS2 could guide effective treatments (i.e., hydroxychloroquine and camostat) for COVID-19. This study suggested that ACE2 or TMPRSS2 DNA polymorphisms were likely associated with genetic susceptibility of COVID-19, which calls for a human genetics initiative for fighting the COVID-19 pandemic.
Publisher: England: BioMed Central Ltd
Language: English
Identifier: ISSN: 1741-7015
EISSN: 1741-7015
DOI: 10.1186/s12916-020-01673-z
PMID: 32664879
Source: DOAJ Directory of Open Access Journals
GFMER Free Medical Journals
MEDLINE
PubMed Central
Springer Nature OA/Free Journals
Coronavirus Research Database
ROAD: Directory of Open Access Scholarly Resources
ProQuest Central

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New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis

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