ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

Rosanna Asselta, Elvezia Maria Paraboschi, Alberto Mantovani, Stefano Duga

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)10087-10098
Number of pages12
JournalAging
Volume12
Issue number11
DOIs
Publication statusPublished - Jun 5 2020

Keywords

  • Angiotensin-Converting Enzyme 2
  • COVID-19
  • Cohort Studies
  • Coronavirus Infections/genetics
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Pandemics
  • Peptidyl-Dipeptidase A/genetics
  • Pneumonia, Viral/genetics
  • Polymorphism, Single Nucleotide
  • Serine Endopeptidases/genetics

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