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The world’s largest study on the genetics of the most severe Covid-19, involving more than 57,000 peoplehas identified 16 new genetic variants associated with severe Covid-19, including some related to blood clotting, the immune response and the intensity of inflammation. The findings have been published in “Nature”.
These findings may serve as a roadmap for future efforts, opening up new fields of research focused on potential new therapies and diagnostics with pinpoint accuracy, the consortium researchers explain.
GenOMICCa global collaboration to study the genetics of critical illness, led by the
University of Edinburgh in association with
Genomics England.
The study has used
data from the sequencing of the genomes of 7,491 patients from 224 ICUs in the United Kingdom. Their DNA was compared to that of 48,400 other people who had not had Covid-19, participants in Genomics England’s 100,000 Genomes Project, and that of a further 1,630 people who had mild Covid-19.
Determining the complete genome sequence of all the study participants allowed the researchers to design a precise map and identify the genetic variation related to the most severe forms of Covid-19. The team found key differences in 16 genes in the ICU patients compared to DNA from the other groups.
It also confirmed the involvement of seven other genetic variations already associated with severe Covid-19 discovered in previous studies by the same team.
The findings show, for example, how a single gene variant disrupts a key messenger molecule in immune system signaling, called interferon alpha-10, which is enough to increase a patient’s risk of severe disease.
These data highlight the key role of the gene in the immune system and suggest that treating patients with interferon (proteins released by immune cells to defend themselves against viruses) may help control the disease in its early stages.
The study has also seen that variations in genes that control levels of a central component of cblood oagulation, known as Factor 8were associated with critical illness in Covid-19.
This may explain some of the coagulation abnormalities, such as thrombus formation, seen in severe cases of Covid-19. Factor 8 is the gene underlying the most common type of hemophilia.
“Our latest findings point to specific molecular targets in severe Covid-19. These results explain why some people develop life-threatening Covid-19, while others have no symptoms at all. But more importantly, this gives us a deep understanding of the disease process and is a big step forward in finding more effective treatments.” Kenneth Baillieprincipal investigator of the project and consultant to the University of Edinburgh.
“We now understand the mechanisms of Covid better than the other syndromes we treat in intensive care in normal times: sepsis, influenza and other forms of critical illness. Covid-19 is showing us the way to tackle those problems in the future », he says.
In this sense, Mark Caulfield of the
Queen Mary University of London and co-author of this study believes that “as covid-19 evolves, we must focus on reducing the number of people who become seriously ill and are hospitalized. Through all of our genome sequencing research, we have discovered new genetic variants that predispose people to serious disease, which now offer a route to new tests and treatments to help protect the public from this virus.”
“This research is an important step forward in better understanding how Covid-19 affects certain people, allowing us to take the necessary steps to protect the most vulnerable and save lives,” the researchers conclude.