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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04516850

Enrollment

400

Registered

2020-08-18

Start date

2020-06-08

Completion date

2023-02-21

Last updated

2023-04-25

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Covid19

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.

Interventions

GENETICExpression 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

GENETICPolymorphism 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)

Study design

Observational model

OTHER

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion 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).

Design outcomes

Primary

Measure	Time frame	Description
Expression of receptors and activating proteases	1 year	Determination of the level of expression of the mRNA genes
Prevalencen of olymorphisms of the HSD3B1	1 year	Determination of the prevalence of polymorphisms of the HSD3B1 patients with severe and mild-moderate SARS-CoV-2 infection
Association of polymorphisms of the HSD3B1	1 year	Evaluation of the association of polymorphisms of the HSD3B1 with clinico-pathological parameters

Countries

Switzerland

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026