Carriers of two genetic mutations at greater risk for illness and death
from COVID-19
Researchers recommend population-wide screening for detecting mutation carriers

Date:
September 26, 2020
Source:
American Friends of Tel Aviv University
Summary:
Researchers suggest that carriers of the genetic mutations PiZ
and 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.



FULL STORY ==========================================================================
Tel Aviv University researchers suggest that carriers of the genetic
mutations PiZ and 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 Prof. David Gurwitz, Prof. Noam Shomron, and MSc
candidate Guy Shapira of TAU's Sackler Faculty of Medicine, and published
in The FASEB Journal on September 22, 2020.

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.

Analysis of databases reveals that in Belgium, where 17 of every 1,000
people carry the PiZ mutation (the more dominant of the two mutations
discussed in this study), the COVID-19 mortality rate was 860 per million according to figures for September 2020. In Spain the picture is similar:
17 of every 1,000 citizens carry the PiZ mutation, and the COVID-19
fatality rate is 640 per million. In the USA, where 15 per 1,000 are
carriers, 590 of every million died of the coronavirus.

The numbers in the UK are in line with the overall trend: 14 per 1,000
carry the mutation and 60 per million have died of COVID-19. In Italy,
where 13 per 1,000 are carriers, the mortality rate is 620 per million. In Sweden, where 13 per 1,000 are carriers, the fatality rate is 570 per
million.

On the other hand, the researchers found that in many countries in Africa
and South East Asia, where these mutations are relatively rare, COVID-19 mortality rates are correspondingly low as of September 2020. In Japan,
where 9 of every million died in the pandemic, the mutations' prevalence
is negligible. Similar numbers were also found in China, South Korea,
Taiwan, Thailand, Vietnam, and Cambodia.

Prof. Gurwitz, Prof. Shomron, and Shapira conclude, "Our data analysis
reveals a strong correlation between these mutations and severe illness
and death from COVID-19. We call upon the research community to test our hypothesis against clinical data, and also call upon decision makers
in every country to conduct population-wide screening for identifying
mutation carriers and prioritize them for vaccination once COVID-19
vaccines have been approved. In the meantime, carriers should be notified
that they may belong to a high-risk group and advised to maintain strict
social isolation."

========================================================================== Story Source: Materials provided by
American_Friends_of_Tel_Aviv_University. Note: Content may be edited
for style and length.


========================================================================== Journal Reference:
1. Guy Shapira, Noam Shomron, David Gurwitz. Ethnic differences in
alpha‐1 antitrypsin deficiency allele frequencies may
partially explain national differences in COVID‐19 fatality
rates. The FASEB Journal, 2020; DOI: 10.1096/fj.202002097 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2020/09/200926145205.htm

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