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

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.

journal_name

Aging (Albany NY)

journal_title

Aging

authors

Asselta R,Paraboschi EM,Mantovani A,Duga S

doi

10.18632/aging.103415

subject

Has Abstract

pub_date

2020-06-05 00:00:00

pages

10087-10098

issue

11

issn

1945-4589

pii

103415

journal_volume

12

pub_type

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