COVID-19 Pneumonia, Embolism, Genetic Predisposition
Conditions
Keywords
thrombophilia, genetic factors, COVID-19
Brief summary
Covid-19 outbreak has caused death of millions of people because of not only the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection itself but also infection dependent complications. Abnormalities in thrombotic events leads to some of these complications which eventually result in emboli. The endothelial damage caused by the virus interacting with ACE2 on the host cells leads to the activation of coagulation cascade. Accumulation of byproducts of the cascade might have some roles in embolism inducing risk of organ damage, other life-threatening problems, and even death. To enlighten the factors triggering embolism, the investigators have focused on genetic changes such as polymorphisms and mutations in certain genes in DNA samples coming from intensive care unit (ICU) patients.
Detailed description
This study has conducted to find the possible links between genetic make up of ICU patients with severe Covid-19 and embolism. 13 polymorphisms and mutations that the investigators targeted are located on Factor II, Factor V, Factor XIII, MTHFR, angiotensin converting enzyme (ACE), endothelial cell protein C receptor (EPCR), and FGB. The investigators have found significant changes in the mutant allele frequencies in most of the factors. The main workflow to study a point change on DNA sequence begins with DNA isolation from a biological material. In this case, we received blood samples in ethylenediaminetetraacetic acid (EDTA) tubes from ICU patients with severe Covid-19. The investigators hypothesis claims that genetic factors triggering thrombotic events might increase the severity of the diseases by inducing the risk of emboli. After DNA isolation, desired loci on DNA were amplified via Polymerase Chain Reaction (PCR). Amplicons including the mutations and polymorphisms need to be purified before next generation sequencing (NGS). The investigators analyze the data using Integrative Genomics Viewer (IGV) program and check the genetic profile (wt, het, mut). Some of the changes are meaningful by themselves while some other need to be considered as combinations. Compound heterozygosity and diagnosis for thrombophilia require cooccurrence of the changes. To compare allelic frequencies, the investigators include the average of the data coming from more than 2000 individuals with no know thrombophilia cases. In the investigators focus cohort, the investigators have the data of 47 Covid-19 patients in ICU.
Interventions
None listed
Sponsors
Afyonkarahisar Health Sciences University
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 95 Years
Healthy volunteers
Yes
Inclusion criteria
* being tested positive for Covid-19 * ICU patients developing severe pneumonia upon Covid-19 infection
Exclusion criteria
* previously tested positive for genetic factors increasing thrombosis risk * ICU patients developing severe emboli regardless of Covid-19 infection
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Changes in allelic frequencies in predetermined loci which are known to be related with thrombosis | 15.03.2021- 30.04.2021 | In the first 28 samples the investigators received, we expected a predictive result revealing the genetic background and embolism in Covid-19. Deviations from allelic frequencies of healthy population regarding some of the factors will support the hypothesis of the study. |
| An increase in thrombophilia cases in the study group | 01.05.2021- 20.05.2021 | Thrombophilia is a complex state with the contribution of several factors. Clinical picture and the mutations enable the diagnosis. With an expanded study group consisting of 47 patients, we determined the patients with thrombophilia. |
Countries
Turkey (Türkiye)
Outcome results
None listed