The study includes 2 sub-projects. Sub-project 1: The aim is to evaluate the expression of receptors and activating proteases mediating SARS-CoV-2 entry and spreading in the local population of Ticino. Sub-project 2: The aim is to investigate the association between the HSD3B1 gene variations and outcome of COVID-19 in the local population of Ticino.
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.
Genetic: Expression of receptors and activating proteases
Level of expression of the mRNA of the genes encoding ACE2, TMPRSS2, TMPRSS4 and AR along with reference genes (beta-actin and EPCAM) in nasopharyngeal swabs taken from patients tested for COVID-19
Genetic: Polymorphism of the HSD3B1
Formalin-fixed paraffin embedded tissue blocks will be amplified using polymerase chain reaction (PCR) based experiments followed by direct sequencing (Sanger sequencing)
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.
Oncology Institute of Southern Switzerland (IOSI)
Bellinzona, Switzerland
Clinica Luganese Moncucco
Lugano, Switzerland
Ricardo Pereira Mestre, MD, Study Chair
Oncology Institute of Southern Switzerland (IOSI)