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Scientists detect variants on chromosomes 3 and 9 that affect respiratory failure. Blood group A is associated with 50% more danger while group 0 confers a protective effect
An international study with the participation of the Vall d'Hebron Barcelona Hospital Campus has identified for the first time genetic factors that increase the risk of developing respiratory failure in patients with covid-19. The work, published in the 'New England Journal of Medicine', determines that not only age, obesity or chronic pathologies such as diabetes or hypertension increase the risk of serious infections, but that genetic variability also influences development. of the disease and explains why some people are asymptomatic and others develop serious symptoms.
This is the first scientific work that relates genetics to the risk of developing severe clinical forms of infection with the SARS-CoV-2 virus. The finding will help identify risk groups that need special protection.
An international study with the participation of the Vall d'Hebron Barcelona Hospital Campus has identified for the first time genetic factors that increase the risk of developing respiratory failure in patients with covid-19. The work, published in the 'New England Journal of Medicine', determines that not only age, obesity or chronic pathologies such as diabetes or hypertension increase the risk of serious infections, but that genetic variability also influences development. of the disease and explains why some people are asymptomatic and others develop serious symptoms.
This is the first scientific work that relates genetics to the risk of developing severe clinical forms of infection with the SARS-CoV-2 virus. The finding will help identify risk groups that need special protection.
Researchers have been able to demonstrate that variants in two regions of the human genome are associated with a greater risk of developing respiratory failure in patients with SARS-CoV-2 infection. One of these regions is located on chromosome 3 and can affect the expression of genes that would favor the entry of the virus.
The genetic variant on chromosome 3 covers a regulatory region of 6 genes that may have a relevant role in the severity of the disease. Although researchers estimate that it is still premature to determine which of these genes can influence the evolution of the infection, it is a proven fact that the coronavirus binds to the ACE2 protein and stabilizes it. In addition, he points out, another of these genes is related to the inflammatory immune reaction in the lungs in response to pathogens.
CHROMOSOME 9 AND THE BLOOD GROUP
The second region is found on chromosome 9, specifically in the gene that determines the ABO system blood group. In this sense, the study states that the data show that blood group A is associated with a 50% higher risk of needing respiratory support in the event of coronavirus infection. In contrast, blood group 0 confers a protective effect against the development of respiratory failure, with up to 35% less risk.
The researchers who participated in the study highlight the "strong association" between certain genetic variants of chromosomes 3 and 9 and the severity of the disease caused by the coronavirus.
They also point out that the genetic variant identified on chromosome 3 is "more frequent" in younger people (59 years on average), which could explain, "at least in part," the severity of certain cases in this group of age.
STUDY WITH A THOUSAND OF PATIENTS
In this study, coordinated by geneticists from Norway and Germany, in addition to the Vall d'Hebron Hospital, researchers from the Hospital Clínico de Barcelona, the Ramón y Cajal in Madrid, the Donostia University Hospital and the Virgen del Rocío Hospital in Seville participated, as well as hospitals in the northern region of Lombardy, the epicenter of the pandemic in Europe.
The work started at the peak of the pandemic in Spain and Italy (March-April). In just 3 weeks, researchers collected blood samples from 1.610 Covid-19 patients who needed respiratory support (oxygen or mechanical ventilation). DNA was extracted from the samples that were sent for analysis to the Kiel laboratory (Germany) with nearly 9 million genetic variants. To achieve this, geneticists and bioinformaticians were involved and with the rapid financial help of philanthropists from Norway.
As the Vall d'Hebron researchers explain, "in less than two months we had all the information necessary to evaluate the results and compare them with a control group of 2.205 healthy people." With these data in hand, "a higher frequency of 26 genetic variants was identified in patients affected by respiratory failure compared to the uninfected control group, and 2 of them in particular located on chromosomes 3 (rs11385942) and 9 ( rs657152) showed a strong association with the severity" of the disease.
