COVID-19 is a viral disease induced by infection with the novel SARS-CoV-2 coronavirus. Infection arises from the inhalation of viral particles spread by an infected individual. The main virus entry pathways are the nose and mouth mucous membranes, particularly rich in ACE2 receptors, that are used by the virus to enter cells and begin its replication. Not all individuals who contract the virus fall ill, and most of those who do (about 70-80%) experience mild symptoms (fever, cough, headache, muscle aches, loss of taste and smell). If the immune system is unable to rapidly fight the virus back, the latter can attack the lungs, affeting oxygen absorption inside the alveoli and lead to pneumonia. This more severe form is observed in 20% of patients and can develop into even more serious complications requiring intensive care, with a high mortality rate. In severe cases (about 5%), the disease spreads to the entire body reaching the cardiovascular system and brain, with the risk of heart attacks, encephalitis and stroke, but it can also affect the liver, kidney and bowel. Reasons why some subjects develop a highly severe disease while others have little or no symptoms at all still remain unclear. Many researchers are trying to find an answer by investigating the human genome, and the Mario Negri laboratories are also working in this direction. The general hypothesis underlying this research project is that inter-individual genetic variations can explain the different responses to viral infection in a population, and that COVID-19 severity is, therefore, genetically determined in each infected subject.
Study Type
OBSERVATIONAL
Enrollment
1,200
Adults (≥18 years) living in Bergamo and in all the towns of its territory shall be invited to voluntarily complete a questionnaire, with their personal data and information on SARS-CoV-2 clinical history (swab test and serologic test results, clinical symptoms, treatments, hospital care) and other previous conditions. Subjects considered fit for the genetic study will be asked to report to the Daccò Clinical Center for an interview, during which the data entered in the questionnaire will be reviewed and implemented, the informed consent for participation in the genetic investigations will be collected and blood sampling will be carried out. Genetic: Exome sequencing and genotyping of host genome of individuals infected with SARS-CoV-2 and showing severe disease (cases), or infected with SARS-CoV-2 and showing mild disease or remaining asymptomatic, and in individuals without evidence of infection with SARS-CoV-2 (negative sierology).
Centro di Ricerche Cliniche per le Malattie Rare "Aldo e Cele Daccò"
Ranica, BG, Italy
Identification of the genetic determinants of COVID-19 severity.
Identification of variants in one or more candidate gene(s) responsible for the severe manifestation of COVID-19.
Time frame: Through study completion, an average of 10 months.
Identification of genetic factors affecting risk of SARS-Cov-2 infection.
Time frame: Through study completion, an average of 10 months.
Identification of polymorphic variants or mutations affecting treatment response in severe COVID-19 patients.
Time frame: Through study completion, an average of 10 months.
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