Official Title
An Exploratory Analysis of the Expression of Receptors and Activating Proteases Mediating SARS-CoV-2 Entry and the Association Between HSD3B1 Gene Polymorphisms With Outcomes in SARS-CoV-2 Infected Patients
Brief Summary

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.

Detailed Description

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.

Not yet recruiting
COVID19

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
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)
Patients with mild-moderate and severe SARS-CoV-2 infection

Eligibility Criteria

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.

Eligibility Gender
All
Eligibility Age
Minimum: 18 Years
Countries
Switzerland
Contacts

Ricardo Pereira Mestre, MD
+41 (0)91 811 8446
ricardo.pereiramestre@eoc.ch

Ricardo Pereira Mestre, MD
Study Chair
Oncology Institute of Southern Switzerland (IOSI)

Ricardo Pereira Mestre
Institute of Oncology Research (IOR)
Istituto Cantonale di Patologia
NCT Number