Selected article for: "allele frequency and rare variant"
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_22
    Snippet: The copyright holder for this preprint (which was not peer-reviewed) is the .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 ( Figure 2 ). Among these the p.Trp69Cys has never been reported before and it is likely to be an Italian population-private rare variant. Other rare variants are predicted to truncate the protein in different positions of the Protease domain thus likely acting on the internalization process. These rare v.....
    Document: The copyright holder for this preprint (which was not peer-reviewed) is the .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 ( Figure 2 ). Among these the p.Trp69Cys has never been reported before and it is likely to be an Italian population-private rare variant. Other rare variants are predicted to truncate the protein in different positions of the Protease domain thus likely acting on the internalization process. These rare variants would likely account for the interindividual clinical variability and likely explain severity even in young adults. Notably, morbidity and lethality have been reported definitely higher in men compared to women (~70% vs 30%, 20th March 2020 ISS report). Although several parameters have been brought to case to explain this difference, i.e. smoking, differences in ACE2 localization and/or density in alveolar cells, hormonal asset, it is noteworthy that ACE2 is located on chromosome X and that given the low allele frequency of the identified variants the rate of homozìgous women is extremely low (see Results section).

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