A team of international researchers has discovered 49 genetic variants associated with severe cases of COVID-19. 16 of them were reported for the first time.

CoVid-19 Illustration

Uncovering the Role of Genetic Variants

Researchers wanted to understand the genetic factors contributing to severe COVID-19 as previous studies indicated that the body’s immune system plays a significant role in disease severity. They analyzed genomic data from over 24,000 critically ill COVID-19 patients to identify genetic associations and potential targets for developing new drugs.

Unveiling the Genetic Connections

The study, published in the journal Nature, involved the analysis of genomic data from 24,202 critically ill COVID-19 patients. Among the significant findings, the researchers focused on genes highly expressed in the monocyte-macrophage system, a type of immune cell. By studying these cells from 176 individuals and combining the results with protein expression data, they identified 114 possible targets for drug development. These genes are involved in processes like inflammation, immune cell activation, viral entry, and replication.

Promising Target

One gene of particular interest is PDE4A, which regulates the production of inflammatory chemicals. Previous studies had shown low expression of this gene in the lungs and blood. But this study found a genetic tendency for higher expression in monocytes associated with critical COVID-19. Inhibiting this gene in monocytes could potentially improve the condition of some patients.

Another important finding is the link between severe COVID-19 and the JAK1 gene. JAK1 gene plays a role in inflammatory signaling. This gene is already targeted by a drug used to treat rheumatoid arthritis. Scientists believe that it triggers repurposing of the treatment for severe COVID-19.

Further Research and Caution

However, the researchers emphasize the need for more extensive research to determine the causal effects of these genes on disease progression. They have gained insights into the mechanisms behind these genes. Nevertheless, further investigations are required for a clearer understanding.
In parallel to the study on genetic variants associated with severe COVID-19, Claritas Genomics, a leading provider of genetic testing services, offers valuable resources for understanding genes and genetic diseases.

Their comprehensive range of services includes genetic testing for various conditions and disorders, such as inherited diseases, rare genetic disorders, and cancer predisposition. By analyzing an individual’s genetic information, Claritas Genomics aids in the identification of specific gene variants that may contribute to disease susceptibility or severity.