July 16, 2020

Study identifies genetic factors that may influence COVID-19 susceptibility

By: Judy Mathias
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Editor's Note

This study by Cleveland Clinic researchers identifies genetic factors that may influence susceptibility to COVID-19, which could guide personalized treatment.

The researchers investigated genetic susceptibility to COVID-19 by examining DNA polymorphisms (variations in DNA sequences) in the ACE2 and TMPRSS2 genes that produce the enzymes that enable the virus to enter and infect human cells.


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Examining 81,000 human genomes from three genomic databases, the researchers found 437 variants in the protein-coding regions of the ACE2 and TMPRSS2 genes. Many of these variants offer potential explanations for different genetic susceptibility to COVID-19 as well as risk factors.

ACE2 polymorphisms were more likely to be associated with cardiovascular and pulmonary conditions by altering the angiotensinogen-ACE2 interactions, such as pArg514Gly in the African/African American population. Unique but prevalent polymorphisms in TMPRSS2, including pVal160Met (rs12329760), may provide explanations for differential genetic susceptibility to COVID-19 as well as for risk factors, including cancer and male patients.

The findings show a possible association between ACE2 and TMPRSS2 variations and COVID-19 susceptibility, indicating that identification of the functional polymorphisms of these variants among different populations could pave a way for precision medicine and personalized treatment strategies for COVID-19, the researchers say.

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