tetano
Editor, Senior Moderator
Aging (Albany NY)
. 2020 Jun 5;12.
doi: 10.18632/aging.103415. Online ahead of print.
ACE2 and TMPRSS2 Variants and Expression as Candidates to Sex and Country Differences in COVID-19 Severity in Italy
Rosanna Asselta[SUP] 1 2 [/SUP], Elvezia Maria Paraboschi[SUP] 1 2 [/SUP], Alberto Mantovani[SUP] 1 2 3 [/SUP], Stefano Duga[SUP] 1 2 [/SUP]
Affiliations
Abstract
As the outbreak of coronavirus disease 2019 (COVID-19) progresses, prognostic markers for early identification of high-risk individuals are an urgent medical need. Italy has one of the highest numbers of SARS-CoV-2-related deaths and one of the highest mortality rates. Worldwide, a more severe course of COVID-19 is associated with older age, comorbidities, and male sex. Hence, we searched for possible genetic components of COVID-19 severity among Italians by looking at expression levels and variants in ACE2 and TMPRSS2 genes, crucial for viral infection.Exome and SNP-array data from a large Italian cohort were used to compare the rare-variants burden and polymorphisms frequency with Europeans and East Asians. Moreover, we looked into gene expression databases to check for sex-unbalanced expression.While we found no significant evidence that ACE2 is associated with disease severity/sex bias, TMPRSS2 levels and genetic variants proved to be possible candidate disease modulators, prompting for rapid experimental validations on large patient cohorts.
Keywords: ACE2; COVID-19; SARS-CoV-2; TMPRSS2; genetic variants.
. 2020 Jun 5;12.
doi: 10.18632/aging.103415. Online ahead of print.
ACE2 and TMPRSS2 Variants and Expression as Candidates to Sex and Country Differences in COVID-19 Severity in Italy
Rosanna Asselta[SUP] 1 2 [/SUP], Elvezia Maria Paraboschi[SUP] 1 2 [/SUP], Alberto Mantovani[SUP] 1 2 3 [/SUP], Stefano Duga[SUP] 1 2 [/SUP]
Affiliations
- PMID: 32501810
- DOI: 10.18632/aging.103415
Abstract
As the outbreak of coronavirus disease 2019 (COVID-19) progresses, prognostic markers for early identification of high-risk individuals are an urgent medical need. Italy has one of the highest numbers of SARS-CoV-2-related deaths and one of the highest mortality rates. Worldwide, a more severe course of COVID-19 is associated with older age, comorbidities, and male sex. Hence, we searched for possible genetic components of COVID-19 severity among Italians by looking at expression levels and variants in ACE2 and TMPRSS2 genes, crucial for viral infection.Exome and SNP-array data from a large Italian cohort were used to compare the rare-variants burden and polymorphisms frequency with Europeans and East Asians. Moreover, we looked into gene expression databases to check for sex-unbalanced expression.While we found no significant evidence that ACE2 is associated with disease severity/sex bias, TMPRSS2 levels and genetic variants proved to be possible candidate disease modulators, prompting for rapid experimental validations on large patient cohorts.
Keywords: ACE2; COVID-19; SARS-CoV-2; TMPRSS2; genetic variants.