COVID‐19 and genetic variants of protein involved in the SARS‐CoV‐2 entry into the host cells

A. Latini, E. Agolini, A. Novelli, P. Borgiani, R. Giannini, P. Gravina, A. Smarrazzo, M. Dauri, M. Andreoni, P. Rogliani, S. Bernardini, M. Helmer‐citterich, M. Biancolella, G. Novelli

Research output: Contribution to journalArticlepeer-review


The recent global COVID‐19 public health emergency is caused by SARS‐CoV‐2 infections and can manifest extremely variable clinical symptoms. Host human genetic variability could influence susceptibility and response to infection. It is known that ACE2 acts as a receptor for this pathogen, but the viral entry into the target cell also depends on other proteins. The aim of this study was to investigate the variability of genes coding for these proteins involved in the SARS‐ CoV‐2 entry into the cells. We analyzed 131 COVID‐19 patients by exome sequencing and examined the genetic variants of TMPRSS2, PCSK3, DPP4, and BSG genes. In total we identified seventeen variants. In PCSK3 gene, we observed a missense variant (c.893G>A) statistically more frequent compared to the EUR GnomAD reference population and a missense mutation (c.1906A>G) not found in the GnomAD database. In TMPRSS2 gene, we observed a significant difference in the frequency of c.331G>A, c.23G>T, and c.589G>A variant alleles in COVID‐19 patients, compared to the corresponding allelic frequency in GnomAD. Genetic variants in these genes could influence the entry of the SARS‐CoV‐2. These data also support the hypothesis that host genetic variability may contribute to the variability in infection susceptibility and severity. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Original languageEnglish
Pages (from-to)1-8
Number of pages8
Issue number9
Publication statusPublished - 2020


  • COVID‐19
  • Genetic variants
  • Host genetic variability
  • PCSK3
  • SARS‐CoV‐2
  • Article
  • BSG gene
  • cohort analysis
  • comparative study
  • controlled study
  • coronavirus disease 2019
  • disease severity
  • DPP4 gene
  • gene
  • gene frequency
  • gene identification
  • genetic database
  • genetic variability
  • host cell
  • human
  • infection sensitivity
  • major clinical study
  • missense mutation
  • PCSK3 gene
  • promoter region
  • sequence analysis
  • Severe acute respiratory syndrome coronavirus 2
  • TMPRSS2 gene
  • virus entry
  • whole exome sequencing
  • adolescent
  • adult
  • aged
  • child
  • Coronavirus infection
  • exome
  • female
  • genetics
  • male
  • middle aged
  • mutation
  • pandemic
  • pathology
  • preschool child
  • single nucleotide polymorphism
  • very elderly
  • virus pneumonia
  • BSG protein, human
  • CD147 antigen
  • dipeptidyl peptidase IV
  • DPP4 protein, human
  • furin
  • FURIN protein, human
  • serine proteinase
  • TMPRSS2 protein, human
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Basigin
  • Child
  • Child, Preschool
  • Coronavirus Infections
  • Dipeptidyl Peptidase 4
  • Exome
  • Female
  • Furin
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pandemics
  • Pneumonia, Viral
  • Polymorphism, Single Nucleotide
  • Serine Endopeptidases

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