Article ; Online: ACE2, TMPRSS2, and Furin variants and SARS-CoV-2 infection in Madrid, Spain.
2020 Volume 93, Issue 2, Page(s) 863–869
Abstract: ... associated with SARS-CoV-2 infection. These variants have previously been detected in Italy. While TMPRSS2 is ... of patients with SARS-CoV-2 infection, some variants, especially in TMPRSS2, may be associated with COVID-19. ... sequencing, the frequency of exonic variants of the ACE2, TMPRSS2, and Furin genes was analyzed in relation ...
Abstract | It has been suggested that some individuals may present genetic susceptibility to SARS-CoV-2 infection, with particular research interest in variants of the ACE2 and TMPRSS2 genes, involved in viral penetration into cells, in different populations and geographic regions, although insufficient information is currently available. This study addresses the apparently reasonable hypothesis that variants of these genes may modulate viral infectivity, making some individuals more vulnerable than others. Through whole-exome sequencing, the frequency of exonic variants of the ACE2, TMPRSS2, and Furin genes was analyzed in relation to presence or absence of SARS-CoV-2 infection in a familial multiple sclerosis cohort including 120 individuals from Madrid. The ACE2 gene showed a low level of polymorphism, and none variant was significantly associated with SARS-CoV-2 infection. These variants have previously been detected in Italy. While TMPRSS2 is highly polymorphic, the variants found do not coincide with those described in other studies, with the exception of rs75603675, which may be associated with SARS-CoV-2 infection. The synonymous variants rs61735792 and rs61735794 showed a significant association with infection. Despite the limited number of patients with SARS-CoV-2 infection, some variants, especially in TMPRSS2, may be associated with COVID-19. |
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MeSH term(s) | Angiotensin-Converting Enzyme 2/genetics ; Angiotensin-Converting Enzyme 2/metabolism ; COVID-19/genetics ; COVID-19/metabolism ; COVID-19/virology ; Cohort Studies ; Furin/genetics ; Furin/metabolism ; Gene Expression ; Genetic Predisposition to Disease ; Host-Pathogen Interactions/genetics ; Humans ; Multiple Sclerosis/genetics ; Multiple Sclerosis/metabolism ; Multiple Sclerosis/virology ; Polymorphism, Genetic ; Protein Binding ; Receptors, Virus/genetics ; Receptors, Virus/metabolism ; SARS-CoV-2/genetics ; SARS-CoV-2/metabolism ; SARS-CoV-2/pathogenicity ; Serine Endopeptidases/genetics ; Serine Endopeptidases/metabolism ; Spain ; Spike Glycoprotein, Coronavirus/genetics ; Spike Glycoprotein, Coronavirus/metabolism ; Surveys and Questionnaires ; Virus Internalization ; Exome Sequencing |
Chemical Substances | Receptors, Virus ; Spike Glycoprotein, Coronavirus ; spike protein, SARS-CoV-2 ; ACE2 protein, human (EC 3.4.17.23) ; Angiotensin-Converting Enzyme 2 (EC 3.4.17.23) ; Serine Endopeptidases (EC 3.4.21.-) ; TMPRSS2 protein, human (EC 3.4.21.-) ; FURIN protein, human (EC 3.4.21.75) ; Furin (EC 3.4.21.75) |
Keywords | covid19 |
Language | English |
Publishing date | 2020-07-28 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 752392-0 |
ISSN | 1096-9071 ; 0146-6615 |
ISSN (online) | 1096-9071 |
ISSN | 0146-6615 |
DOI | 10.1002/jmv.26319 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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