Clinical and molecular characterization of COVID-19 hospitalized patients

Author:

Benetti Elisa,Giliberti Annarita,Emiliozzi AriannaORCID,Valentino Floriana,Bergantini Laura,Fallerini Chiara,Anedda Federico,Amitrano Sara,Conticini Edoardo,Tita Rossella,d’Alessandro Miriana,Fava Francesca,Marcantonio Simona,Baldassarri MargheritaORCID,Bruttini Mirella,Mazzei Maria Antonietta,Montagnani FrancescaORCID,Mandalà MarcoORCID,Bargagli Elena,Furini SimoneORCID,Renieri AlessandraORCID,Mari FrancescaORCID,

Abstract

ABSTRACTClinical and molecular characterization by Whole Exome Sequencing (WES) is reported in 35 COVID-19 patients attending the University Hospital in Siena, Italy, from April 7 to May 7, 2020. Eighty percent of patients required respiratory assistance, half of them being on mechanical ventilation. Fiftyone percent had hepatic involvement and hyposmia was ascertained in 3 patients. Searching for common genes by collapsing methods against 150 WES of controls of the Italian population failed to give straightforward statistically significant results with the exception of two genes. This result is not unexpected since we are facing the most challenging common disorder triggered by environmental factors with a strong underlying heritability (50%). The lesson learned from Autism-Spectrum-Disorders prompted us to re-analyse the cohort treating each patient as an independent case, following a Mendelian-like model. We identified for each patient an average of 2.5 pathogenic mutations involved in virus infection susceptibility and pinpointing to one or more rare disorder(s). To our knowledge, this is the first report on WES and COVID-19. Our results suggest a combined model for COVID-19 susceptibility with a number of common susceptibility genes which represent the favorite background in which additional host private mutations may determine disease progression.

Publisher

Cold Spring Harbor Laboratory

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