4.7 Article

ACE2, TMPRSS2, and Furin variants and SARS-CoV-2 infection in Madrid, Spain

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JOURNAL OF MEDICAL VIROLOGY
卷 93, 期 2, 页码 863-869

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WILEY
DOI: 10.1002/jmv.26319

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ACE2; coronavirus; COVID-19; familial multiple sclerosis; SARS-CoV-2; Spain; TMPRSS2; whole-exome sequencing

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This study investigated the impact of genetic variants on SARS-CoV-2 infection susceptibility, finding low polymorphism in the ACE2 gene and a potential association of variants in the TMPRSS2 gene with COVID-19. Despite a limited number of patients, these findings are important for understanding individual susceptibility to viral infections.
It has been suggested that some individuals may present genetic susceptibility to SARS-CoV-2 infection, with particular research interest in variants of theACE2andTMPRSS2genes, 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 theACE2, TMPRSS2, andFuringenes was analyzed in relation to presence or absence of SARS-CoV-2 infection in a familial multiple sclerosis cohort including 120 individuals from Madrid. TheACE2gene 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. WhileTMPRSS2is 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 inTMPRSS2, may be associated with COVID-19.

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