Study delivered in Wessex finds link between genetic differences and severe COVID-19
The world’s largest study of the genetics of severe COVID-19 has found 16 genetic variants associated with the severe form of the disease. These include blood clotting, immune response and intensity of inflammation.
The DNA was compared with 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 experienced mild cases of the disease.
These findings will act as a roadmap for future efforts, opening new fields of research focused on potential new therapies and diagnostics with pinpoint accuracy, experts say.
More than 800 people from Dorset, Hampshire, south Wiltshire and the Isle of Wight took part.
Thanks to the high participation numbers, a precise map was able to be created by researchers which identified genetic variation linked to the severity of the disease.
Dr David Pogson, Clinical Lead for Critical Care at the Clinical Research Network Wessex, said: “This groundbreaking research goes a long way to helping us understand severe COVID-19. The results have enabled us to identify drugs that are likely to work on COVID-19 and we can begin to study these quickly through other trials such as RECOVERY and REMAP.
“Research staff across the region have been instrumental in ensuring the recruitment for this study. I’d like to thank all the teams who helped us meet our targets and extend a special thank you to all the participants in this trial.”
Findings included how a single gene variant that disrupts a key messenger molecule in immune system signalling – called interferon alpha-10 – was enough to increase a patient’s risk of severe disease.
This highlights the gene’s key role in the immune system and suggests that treating patients with interferon – proteins released by immune cells to defend against viruses – may help manage disease in the early stages.
Professor Kenneth Baillie, the project’s chief investigator and a Consultant in Critical Care Medicine at University of Edinburgh, said: “Our latest findings point to specific molecular targets in critical COVID-19. These results explain why some people develop life-threatening COVID-19, while others get no symptoms at all. But more importantly, this gives us a deep understanding of the process of disease and is a big step forward in finding more effective treatments.
“It is now true to say that we understand the mechanisms of COVID-19 better than the other syndromes we treat in intensive care in normal times – sepsis, flu, and other forms of critical illness. COVID-19 is showing us the way to tackle those problems in the future.”
The study also found that variations in genes that control the levels of a central component of blood clotting – known as Factor 8 – were associated with critical illness in COVID-19. This may explain some of the clotting abnormalities that are seen in severe cases of COVID-19. Factor 8 is the gene underlying the most common type of haemophilia.
The findings have been published in Nature.
Read more on the NIHR website.
