HSD3B1 Gene Polymorphisms With Outcomes in SARS-CoV-2 Infected Patients

Sub-project 1:

This is an observational retrospective study that aims to evaluate the expression of receptors and activating proteases mediating SARS-CoV-2 entry and spreading in the local population of Ticino. The level of expression of these factors will be compared between infected and non-infected subjects. The sub-project will examine RNA samples from nasopharyngeal swabs taken from subjects tested for COVID-19.

Sub-project 2:

This is a haplotype- and diplotype-based case-control retrospective study that aims to investigate the association between the HSD3B1 gene variations and outcome of COVID-19 in the local population of Ticino. The gene status of HSD3B1 will be defined and compared between two groups of patients: the patients who experienced a severe SARS-CoV-2 infection (severe pulmonary insufficiency, ICU admission, eventually death) and the group with a mild-moderate COVID-19 disease without pulmonary insufficiency and oxygen need.

Sub-project 1

Inclusion criteria

• Availability of RNA extracted from nasopharyngeal swabs taken from subjects tested for COVID-19;
• Subject is aged 18 years or over;
• Written informed consent (for SARS-CoV-2 positive patients only; see §5 for further details).

Exclusion criteria

• Documented refusal.

Sub-project 2

Inclusion criteria

• Female and male hospitalized SARS-CoV-2 patients;
• Patient is aged 18 years or over;
• Availability of archival tissue samples collected at any time before SARS-CoV-2 infection for any clinical reason;
• Clinico-pathological characteristics of the COVID-19 and clinical outcomes recorded in the EOC and Clinica Luganese Moncucco database;
• Written informed consent (see §5 for further details).

Exclusion criteria

• Documented refusal.