Scientists have created a detailed genetic map that allows them to identify specific genetic mutations associated with severe cases of COVID-19.
Through whole-genome sequencing, the research team Led by the University of Edinburgh In partnership with Genomics England, we have identified 16 new independent mutants, including those within genes involved in interferon signaling and blood coagulation.
the study, Was announced in Nature Was also able to confirm the involvement of seven other genetic variants previously involved by the same team that individuals are significantly more susceptible to serious symptoms after being infected with the SARS-CoV-2 virus. rice field.
Studies involving patients from over 200 ICUs
Professor Kenneth Bailey, a consultant and senior researcher in emergency medicine at the University of Edinburgh, said in an online briefing hosted by the Science Media Center: More powerful than other genetic studies. This is because we have defined a very narrow and consistent patient group for studying in very extreme forms of disease. This makes it much easier to see the difference from other populations. “
Researchers from Genetics of mortality in critical care The (GenOMICC) consortium sequenced the genomes of 7491 critically ill patients from 224 intensive care units in the United Kingdom and compared them to a control group consisting of 46,770 without COVID and 1630 with mild COVID.
They identified 23 replicated genetic associations with significant COVID-19 in 7491 cases.
The findings include five genetic variants associated with severe COVID-19 patients that directly affect interferon signaling, including one variant that disrupts the nuclear localization signal that is important for the antiviral effect of interferon. It was. This finding suggests that treating patients with interferon may help manage COVID in the early stages. Among other findings, genetic variation that regulates factor VIII levels was associated with serious illness in COVID patients. According to researchers, this may explain coagulation abnormalities in severe cases. Other important associations included genes involved in lymphocyte hematopoiesis and bone marrow cell differentiation.
Professor Bailey said: “These results explain why some people develop life-threatening COVID-19 and others have no symptoms at all, but more importantly, this deepens the process of the disease. It’s a big step forward in understanding and discovering. More effective treatments. “
Genetics “Part of Everyday Healthcare”
Professor Mark Caulfield, a former chief scientist and co-author of the study at Queen Mary University of London, commented: Through whole-genome sequencing research, we have discovered new genetic variants that make people more susceptible to serious illness. This provides a path to new tests and treatments that help protect the general public and the NHS from this virus. “
Dr. Rich Scott, Chief Medical Officer of Genomics England, said:
“This study demonstrates the value of whole-genome sequencing for detecting rare and common mutations that affect serious diseases that require intensive care. This is due to the heavy genetic makeup of COVID-19. It’s a big leap forward in understanding how it affects serious illnesses. “
Andrew Mumford, a professor of hematology at the University of Bristol, commented on the findings: “Naturally occurring changes in multiple genes in the immune, inflammation, and coagulation pathways together affect the severity of the disease and are complex. It was shown that multiple stages of symptoms were confirmed in COVID-19 “underlying pathology.
“Understanding the genomic basis of the response to COVID-19 may improve the prediction of whether an individual patient will develop a serious disease. Some of the genes identified in this study are: It is already known to be the target of existing treatments for COVID- 19. Others represent the target of new drugs that are exciting candidates for future clinical research. “
