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

Ricardo Pereira Mestre400 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

400

Conditions

Covid19

Interventions

Expression of receptors and activating proteasesGENETIC

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

Polymorphism of the HSD3B1GENETIC

Formalin-fixed paraffin embedded tissue blocks will be amplified using polymerase chain reaction (PCR) based experiments followed by direct sequencing (Sanger sequencing)

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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.

Locations (2)

Oncology Institute of Southern Switzerland (IOSI)

Bellinzona, Switzerland

Clinica Luganese Moncucco

Lugano, Switzerland

Outcomes

Primary Outcomes

Expression of receptors and activating proteases

Determination of the level of expression of the mRNA genes

Time frame: 1 year

Prevalencen of olymorphisms of the HSD3B1

Determination of the prevalence of polymorphisms of the HSD3B1 patients with severe and mild-moderate SARS-CoV-2 infection

Time frame: 1 year

Association of polymorphisms of the HSD3B1

Evaluation of the association of polymorphisms of the HSD3B1 with clinico-pathological parameters

Time frame: 1 year

Data from ClinicalTrials.gov

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