Carriers of Either of Two Genetic Mutations Causing Alpha-1 Antitrypsin Deficiency at Greater Risk for Illness & Death from COVID-19; Mutations Found Less Frequently in East and Southeast Asia and Sub-Saharan Africa, Which Have Suffered Less from COVID-19

Tel Aviv University (TAU) researchers suggest that carriers of the genetic mutations PiZ or PiS are at high risk for severe illness and even death from COVID-19. These mutations lead to deficiency in the alpha1-antitrypsin protein, which protects lung tissues from damage in case of severe infections. Other studies have already associated deficiency in this protein with inflammatory damage to lung function in other diseases. The study was led by Professor David Gurwitz, Professor Noam Shomron, and MSc candidate Guy Shapira of TAU's Sackler Faculty of Medicine, and was published online in The FASEB Journal on September 22, 2020 ( The open-access article is titled “Ethnic Differences in Alpha‐1 Antitrypsin Deficiency Allele Frequencies May Partially Explain National Differences In COVID‐19 Fatality Rates.” The researchers analyzed data from 67 countries on all continents. Comparisons revealed a highly significant positive correlation between the prevalence of the two mutations in the population and COVID-19 mortality rates (adjusted to size of the population) in many countries, such as the USA, the UK, Belgium, Spain, Italy, and more. Consequently, the researchers suggest that these mutations may be additional risk factors for severe COVID-19. They now propose that their findings should be corroborated by clinical trials, and, if validated, should lead to population-wide screening for identifying carriers of the PiS and/or PiZ mutations. Such individuals should then be advised to take extra measures of social distancing and later be prioritized for vaccination once vaccines are available. According to the researchers, these steps can be effective in reducing COVID-19 morbidity and fatality rates.
Login Or Register To Read Full Story