Author: Alessandra Renieri; Elisa Benetti; Rossella Tita; Ottavia Spiga; Andrea Ciolfi; Giovanni Birolo; Alessandro Bruselles; Gabriella Doddato; Annarita Giliberti; Cterina Marconi; Francesco Musacchia; Tommaso Pippucci; Annalaura Torella; Alfonso Trezza; Floriana Valentino; Mrgherita Baldassarri; Alfredo Brusco; Rosanna Asselta; Bruttini Mirella; Simone Furini; Marco Seri; Vincenzo Nigro; Giuseppe Matullo; Marco Tartaglia; Francesca Mari; Annamaria Pinto
Title: ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population Document date: 2020_4_6
ID: klj710h2_5
Snippet: The copyright holder for this preprint (which was not peer-reviewed) is the . https://doi.org/10.1101/2020.04.03.20047977 doi: medRxiv preprint previously been reported in public databases. We show that p.Asn720Asp, which affect a residue located close to the cleavage sequence of TMPRSS2, likely affects the cleavage-dependent virion intake. Along with the other two common variants, this substitution is significantly represented in the Italian and.....
Document: The copyright holder for this preprint (which was not peer-reviewed) is the . https://doi.org/10.1101/2020.04.03.20047977 doi: medRxiv preprint previously been reported in public databases. We show that p.Asn720Asp, which affect a residue located close to the cleavage sequence of TMPRSS2, likely affects the cleavage-dependent virion intake. Along with the other two common variants, this substitution is significantly represented in the Italian and European populations but is extremely rare in the Asian population. We also show that three rare variants, namely, p.Trp69Cys, p.Leu351Val and p.Pro389His are predicted to cause conformational changes impacting RBD interaction. As the uncertainty regarding the transmissibility and severity of disease rise, we believe that a deeper characterisation of the host genetics and functional characterization of variants may help not only in understanding the pathophysiology of the disease but also in envisaging risk assessment.
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