GEN-COVID multicenter study aims to identify the genetic variants of the host genomeresponsible for the clinical variability of patients with COVID-19. This variability todate is only partially related to the age and comorbidities of patients. The primaryobjective of the study is therefore to identify genetic variants associated with theseverity of the disease, while the secondary objective consists in the identification ofvariants associated with longitudinal disease trajectories.This is a laboratory study that involves the conduct of genetic investigations, includingwhole exome sequencing and genome wide association studies, on human biological materialfrom patients affected by COVID-19.Clinical information useful to describe the level of disease severity will be alsocollected for each enrolled patient.A total of at least 2,000 COVID-19 patients is expected to be included.
The outbreak of the coronavirus disease 2019 (COVID-19), the Severe Acute Respiratory
Syndrome caused by SARS-CoV-2, that first appeared in December 2019 in Wuhan, Huanan,
Hubei Province of China, has resulted in millions of cases worldwide within a few short
months, and rapidly evolving into a real pandemic. The COVID-19 pandemic represents an
enormous challenge to the world's healthcare systems. Among the European countries, Italy
was the first to experience the epidemic wave of SARS-CoV-2 infection, accompanied by a
severe clinical picture and a mortality rate reaching 14%.
The disease is characterized by a highly heterogeneous phenotypic response to SARS-CoV-2
infection, with the large majority of infected individuals having only mild or even no
symptoms. However, the severe cases can rapidly evolve towards a critical respiratory
distress syndrome and multiple organ failure. The symptoms of COVID-19 range from fever,
cough, sore throat, congestion, and fatigue to shortness of breath, hemoptysis, pneumonia
followed by respiratory disorders and septic shocks.
The GEN-COVID is a multicentre academic observational study designed to collect and
systematize biological samples and clinical data across multiple hospitals and healthcare
facilities in Italy with the purpose of deriving patient-level phenotypic and genotypic
data. The project aims to identify the genetic determinants of COVID-19 clinical
variability studying host genetics. Genetic analyses will include Genome Wide Association
Studies, performed by the Institute of Molecular Medicine in Finland (FIMM), and Whole
Exome Sequencing (WES) performed by the University of Siena. SARS-CoV-2 infected
individuals (swab virus PCR-positive) showing clinical different severity will be
collected. In particular enrolled subjects will include only adults (subjects with age
higher or equal to 18 years) with the following clinical status types: asymptomatic
individuals, home care patients with mild symptoms and hospitalized patients (i-those
requiring invasive ventilation; ii-those requiring non-invasive ventilation i.e. CPAP and
BiPAP, and high-flows oxygen therapy; iii- those requiring conventional oxygen therapy,
and iv-those not requiring oxygen therapy).
Funding. MIUR project "Dipartimenti di Eccellenza 2018-2020" to Department of Medical
Biotechnologies University of Siena, Italy; Private donors for COVID research (Italian
D.L. n.18 March 17, 2020).
Genetic: Massive parallel sequencing of host genome
Massive parallel sequencing and genotyping of host genome of individuals infected with
SARS-CoV-2 and showing different clinical outcomes from asymptomatic to severely affected
patients in order to identify the genetic determinants of severe COVID-19 and the genetic
protective factors.
Inclusion Criteria:
- Age > or equal to 18
- SARS-CoV-2 PCR positive on swab
Exclusion Criteria:
- none
University of Siena
Siena, Italy
Investigator: Alessandra Renieri, MD, PhD
Contact: 00390577233303
alessandra.renieri@unisi.it
Investigator: Francesca Mari, MD, PhD
Alessandra Renieri, MD, PhD
00390577233303
alessandra.renieri@unisi.it
Francesca Mari, MD, PhD, Principal Investigator
University of Siena