12th Jun 2020

COVID-19 FAQ: Can genetic variations impact the severity of the disease?

12th Jun 2020

Curated by Endre Szvetnik

At the moment there is no clear scientific answer. Researchers are hunting for genetic clues to help identify people at risk from more severe cases of COVID-19.

Are there genetic reasons behind why some people end up in hospital with COVID-19 and others don't?

One hypothesis is that genetic mutations determine if someone experiences mild symptoms or needs hospital treatment. Researchers are  focusing on discovering the genetic mutations that can make it easier for the virus to bind and enter human cells. Infection begins when SARS-CoV-2 attaches itself to the ACE2 enzyme on the surface of cells lining our lungs or intestines.

A paper published in Nature magazine in February suggested there was no solid evidence to back up this hypothesis. Other research that emerged later, on the other hand, cautiously floated the possibility of genetically inherited resilience to infection in ACE2 (meaning it could make the progress of COVID-19 milder in certain people). A not yet peer-reviewed Italian study from April highlighted three genetic mutations linked to ACE2 in genome samples of COVID-19 hospital patients. The preliminary findings suggest that such mutations can make it easier for SARS-CoV-2 to penetrate human cells, resulting in a more severe form of illness. This result may sound promising in terms of research, but yet another team has found (in another study awaiting peer-review) that such genetic variations were too rare to explain why some people fall more severely ill  with COVID-19 than others.

How are these results then useful in the fight against COVID-19? Although we still don’t have a definitive answer, the research confirms that blocking the coronavirus from binding to the human ACE2 receptor is one of the promising avenues in drug development. Also, the researchers say the genetic approach allows specialists to find existing drugs that would work for specific individuals as COVID-19 treatment. For example, androgen suppression drugs used as a treatment for prostate cancer could be helpful for COVID-19, as they target the TMPRSS2 gene which aids SARS-CoV-2 to bind to the ACE2 receptor. Researchers are trying to find out how these drugs could be safely repurposed to treat COVID-19 patients.

Here is the current state of science on a Sparrho pinboard. NB: The pinboard contains research papers that have not been peer-reviewed yet, meaning that they have not gone through the standard scientific validation process yet.

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Curated by

Endre Szvetnik

Endre Szvetnik is Senior Editor at Sparrho. Endre works with Sparrho Heroes to curate, translate and disseminate scientific research to the wider public.

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