It was published on Nature one of the largest Covid genome-wide association studies, based on data from nearly 50,000 virus-positive people and 2 million healthy control subjects, by over 3,500 researchers for 61 sub-studies from 25 countries.
The study claims that there are 13 points in the human genome strongly associated with the risk of Coronavirus infection or the severity of Covid. Genomes that increase susceptibility to infection and the risk of developing severe forms of the disease.
Covid, which genetic factors influence the disease
In March 2020, while the lethality of the SARS-CoV-2 virus in Italy is extraordinarily higher than elsewhere, doctors realize that not all people get sick with the same severity. Hence a question: What genetic factors influence the development of a serious or fatal disease, rather than mild or no symptoms at all? In April 2020, 4 Humanitas researchers publish in open access one of the first studies on the genetics of Covid-19, a work soon deepened thanks to a consortium between Italy, Spain, Germany and Norway. Like them, many scientists around the world are starting to look for an answer to the clinical question in genes.
The published study also encapsulates those early efforts. This great global commitment, Covid-19 Host Genomics Initiative, allowed to locate 13 loci, or locations in the human genome, which are strongly associated with the risk of Sars-CoV-2 infection or the severity of the disease. The findings could help identify targets for future therapies and demonstrate the usefulness of genetic studies in understanding infectious diseases.
Covid, Italy also made an important contribution to the study
The Covid-19 Host Genomics Initiative was founded in March 2020 by Andrea Ganna, group leader at the Institute for Molecular Medicine Finland (Fimm) of the University of Helsinki, and by Mark Daly, director of Fimm and member of the Broad Institute of MIT and Harvard in Boston, Massachusetts. The initiative has become one of the largest collaborations in the field of human genetics. In the Milan area, in addition to Humanitas, the University of Milan and the University of Milan-Bicocca participated, collaborating in a project called Genius (Genetics Against Coronavirus), also supported by a donation from Intesa Sanpaolo.
“We have been much more successful than past experiences in understanding the role of genetic diversity because we have participated in a concerted effort to reach populations all over the world ”, says Stefano Duga, researcher at Humanitas and professor of Molecular Biology at Humanitas University. “There is still a lot of work to do, but we are on the right path to better understand this disease,” he adds.
Covid, the 13 points of the human genome
Of the 13 loci identified so far by the global consortium team, two had higher frequencies among East Asian or South Asian patients than those of European origin. One of these two loci, in particular, is close to the Foxp4 gene, which is linked to lung cancer. The Foxp4 variant associated with clinically severe forms of Covid-19 increases gene expression, suggesting that gene inhibition could be a potential therapeutic strategy. This underlines the importance of analyzing samples from populations with different genetic backgrounds. Other loci associated with severe Covid-19 include Dpp9, a gene also involved in lung cancer and pulmonary fibrosis, and Tyk2, which is implicated in some autoimmune diseases.
Although vaccines confer protection against infection, there is still a considerable room for improvement in the treatment of Covid-19, which can make use of the results of genetic analyzes.
“The better we are able to treat Covid-19, the more the medical community will be able to manage the disease and its impact on society – highlights Rosanna Asselta of Humanitas – To this end, the global consortium has made the collected data immediately available to the scientific community, in order to speed up searches as much as possible by other scientists. The goal is to discover therapeutic strategies that allow, thanks to the contribution of genetics in understanding the molecular mechanisms of the disease, to be used existing drugs (the so-called ‘drug repurposing’) which could quickly lead to new therapies “.
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