The COVID-19 infection severity depends on many factors, including genetic factors. TheSNPs of ACE1, ACE2 and TMPRSS2; which have a big role in the viral entry to the cells,will be tested and help establish a relationship between the genetic variation in theseSNPs and the severity of the COVID-19 symptoms. The aim of this study is to detect theassociation between ACE1, ACE2 and TMPRSS2 gene polymorphism variants and occurrences ofsevere complications in Egyptians patients with COVID-19 disease.
The world has been battling with the COVID-19 pandemic since the end of 2019, which is
caused by the highly contagious SARS-CoV-2 with over 25 million confirmed cases all
around the world. Although it has been the focus of many studies, this new pandemic is
still an enigma in many ways. The severity of the symptoms can vary from mild symptoms
with flu-like symptoms and self-limiting disease to severe respiratory symptoms that
needs hospitalization and ICU admission and can lead to death. Several factors have been
speculated to affect the severity of the COVID-19 infection including genetic factors. In
this study, we will investigate the variation in three different SNPs, one for the ACE2
gene which is the binding receptor for the SARS-CoV-2 virus (rs908004, consequence: 3
Prime UTR Variant, Alleles: C>G / C>T), one for the ACE (I/D) gene; which can in term
affect the ACE2 receptor and the probability for lung injury ( rs4343, Consequence:
Synonymous Variant, Alleles: G>A), and one for the TMPRSS2 gene; which is a transmembrane
protease which activates the viral spike by priming it when it is attached to the ACE2
receptor ( rs12329760, consequence: Missense Variant, Alleles: C>T), and conclude if they
have any effect in the COVID-19 disease severity and need for hospitalization and
admission to the ICU. The aim is:
- To detect the incidence of angiotensin-converting enzyme Insertion/Deletion (ACE
I/D), angiotensin-converting enzyme 2 (ACE2) and type 2 transmembrane serine
protease (TMPRSS2) gene polymorphisms in the Egyptian population.
- To detect association between angiotensin-converting enzyme Insertion/Deletion (ACE
I/D) gene polymorphism variants and occurrences of severe complications in patients
with COVID-19 disease.
- To detect association between angiotensin-converting enzyme 2 (ACE2) gene
polymorphism variants and occurrences of severe complications in patients with
COVID-19 disease.
- To detect association between type 2 transmembrane serine protease (TMPRSS2) gene
polymorphism variants and occurrences of severe complications in patients with
COVID-19 disease.
- To investigate the potential interaction between ACE (I/D), ACE2 and TMPRSS2 gene
polymorphisms and the occurrences of severe complications in patients with COVID-19
disease.
Inclusion Criteria:
Ø Positive nasal Swap for COVID-19 Infection. Ø Age of 18 years to 80 years. Ø Written
informed consent of the subject to participate in the study.
Exclusion Criteria:
Ø Patients with any prior respiratory problems such Asthma and COPD.
Cairo University Hospitals
Cairo, Egypt
Investigator: Naglaa S Bazan, PhD
Contact: 01005807504
naglaabazan@cu.edu.eg
Naglaa S Bazan, PhD
01005807504 - 002
naglaabazan@cu.edu.eg
Abdelrahman A Abdelgawad, BScPharm
01119110322 - 002
abdelrahman114549@miuegypt.edu.eg