Structural genetic variants may play a role in severity of COVID-19 infection, study finds


In a new study at Augusta University in Georgia, researchers found several structural genetic variants in severely ill patients infected with the novel coronavirus (COVID-19), which may contribute to disease severity.

The investigation was led by Ravindra Kolhe, MD, PhD, of the Medical College of Georgia at Augusta University and published in the journal iScience. Kolhe and his colleagues used optical genome mapping (OGM) on 52 severely ill COVID-19 patients to identify large structure variants (SVs). According to the study, SVs are responsible for a significant amount of genetic diversity and can be closely observed using OGM, which images long DNA molecules and allows for unbiased genome-wide coverage.

Of the patients studied, 42 percent were diagnosed with type 2 diabetes, 61 percent had hypertension, 19 percent had chronic kidney disease, and 5.7 percent had asthma. During their stay at the ICU, 39 patients recovered and 13 died. The study identified seven rare SVs that affect 31 genes associated with viral host response pathways in nine of the most severely sick patients. According to researchers, these genes were involved in innate immunity and inflammatory response as well as viral replication and spread. Each of the nine patients shared common chronic pre-existing conditions. In all, the study identified 40 rare SVs in the 52 patients observed.

Although more research is needed to draw an official conclusion, this study implied that there’s a connection between SVs and host-virus interaction. More targeted information on who is most at risk for severe COVID-19 could assist in the prevention and treatment of disease for those individuals.