ACE2, TMPRSS2, and Furin variants and SARS-CoV-2 infection in Madrid, Spain.
Angiotensin-Converting Enzyme 2
/ genetics
COVID-19
/ genetics
Cohort Studies
Furin
/ genetics
Gene Expression
Genetic Predisposition to Disease
Host-Pathogen Interactions
/ genetics
Humans
Multiple Sclerosis
/ genetics
Polymorphism, Genetic
Protein Binding
Receptors, Virus
/ genetics
SARS-CoV-2
/ genetics
Serine Endopeptidases
/ genetics
Spain
Spike Glycoprotein, Coronavirus
/ genetics
Surveys and Questionnaires
Virus Internalization
Exome Sequencing
ACE2
COVID-19
SARS-CoV-2
Spain
TMPRSS2
coronavirus
familial multiple sclerosis
whole-exome sequencing
Journal
Journal of medical virology
ISSN: 1096-9071
Titre abrégé: J Med Virol
Pays: United States
ID NLM: 7705876
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
10
06
2020
revised:
03
07
2020
accepted:
15
07
2020
pubmed:
22
7
2020
medline:
15
1
2021
entrez:
22
7
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32691890
doi: 10.1002/jmv.26319
pmc: PMC7404937
doi:
Substances chimiques
Receptors, Virus
0
Spike Glycoprotein, Coronavirus
0
spike protein, SARS-CoV-2
0
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
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
863-869Informations de copyright
© 2020 Wiley Periodicals LLC.
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