tetano
Editor, Senior Moderator
J Med Virol
. 2020 Jul 21.
doi: 10.1002/jmv.26319. Online ahead of print.
ACE2, TMPRSS2, and Furin variants and SARS-CoV-2 infection in Madrid, Spain
Laura Torre-Fuentes[SUP] 1 [/SUP], Jorge Mat?as-Guiu[SUP] 1 [/SUP], Laura Hern?ndez-Lorenzo[SUP] 1 [/SUP], Paloma Montero-Escribano[SUP] 1 [/SUP], Vanesa Pytel[SUP] 1 [/SUP], Jes?s Porta-Etessam[SUP] 1 [/SUP], Ulises G?mez-Pinedo[SUP] 1 [/SUP], Jordi A Mat?as-Guiu[SUP] 1 [/SUP]
Affiliations
Abstract
Introduction: 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.
Material and methods: Through whole-exome sequencing, the frequency of exonic variants of the ACE2, TMPRSS2, and Furin genes was analysed in relation to presence/absence of SARS-CoV-2 infection in a familial multiple sclerosis cohort including 120 individuals from Madrid.
Results: 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.
Conclusions: Despite the limited number of patients with SARS-CoV-2 infection, some variants, especially in TMPRSS2, may be associated with COVID-19. This article is protected by copyright. All rights reserved.
Keywords: ACE2; COVID-19; SARS-CoV-2; Spain; TMPRSS2; coronavirus; familial multiple sclerosis; whole-exome sequencing.
. 2020 Jul 21.
doi: 10.1002/jmv.26319. Online ahead of print.
ACE2, TMPRSS2, and Furin variants and SARS-CoV-2 infection in Madrid, Spain
Laura Torre-Fuentes[SUP] 1 [/SUP], Jorge Mat?as-Guiu[SUP] 1 [/SUP], Laura Hern?ndez-Lorenzo[SUP] 1 [/SUP], Paloma Montero-Escribano[SUP] 1 [/SUP], Vanesa Pytel[SUP] 1 [/SUP], Jes?s Porta-Etessam[SUP] 1 [/SUP], Ulises G?mez-Pinedo[SUP] 1 [/SUP], Jordi A Mat?as-Guiu[SUP] 1 [/SUP]
Affiliations
- PMID: 32691890
- DOI: 10.1002/jmv.26319
Abstract
Introduction: 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.
Material and methods: Through whole-exome sequencing, the frequency of exonic variants of the ACE2, TMPRSS2, and Furin genes was analysed in relation to presence/absence of SARS-CoV-2 infection in a familial multiple sclerosis cohort including 120 individuals from Madrid.
Results: 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.
Conclusions: Despite the limited number of patients with SARS-CoV-2 infection, some variants, especially in TMPRSS2, may be associated with COVID-19. This article is protected by copyright. All rights reserved.
Keywords: ACE2; COVID-19; SARS-CoV-2; Spain; TMPRSS2; coronavirus; familial multiple sclerosis; whole-exome sequencing.