ACE2 polymorphisms as potential players in COVID-19 outcome

Area of Science:

• Genetics
• Epidemiology
• Virology

Background:

• The COVID-19 pandemic, caused by SARS-CoV-2, has shown varied incidence and mortality rates across regions, ethnicities, and sexes.
• While multifactorial, a potential biological basis for these disparities, particularly sex-based differences, warrants investigation.

Purpose of the Study:

• To explore the role of genetic variations in the angiotensin I-converting enzyme 2 (ACE2) gene as a potential factor influencing COVID-19 outcomes.
• To investigate if specific ACE2 polymorphisms correlate with observed epidemiological differences in COVID-19 severity between sexes and across global populations.

Main Methods:

• Conducted exome sequencing analysis on South American populations (native and admixed).
• Performed in silico genomic database investigations using data from diverse global populations.
• Identified and analyzed genetic polymorphisms within coding, noncoding, and regulatory regions of the ACE2 gene.

Main Results:

• Discovered at least ten ACE2 polymorphisms with potential functional significance.
• These polymorphisms were found in various populations worldwide.
• The identified genetic variations offer a plausible biological mechanism for epidemiological disparities.

Conclusions:

• Specific ACE2 polymorphisms are associated with COVID-19 epidemiological differences.
• These genetic variations may contribute to the observed discrepancies in disease outcomes between sexes and among different ancestral groups.
• The findings highlight the importance of genetic factors in understanding global pandemic variations.