Ethnicity-dependent allele frequencies are correlated with COVID-19 case
fatality rate
Abstract
Coronavirus disease (COVID-19), caused by SARS-CoV-2, has a higher case
fatality rate (CFR) in European ethnic groups than in others, especially
East Asians. One explanation to this phenomenon might be TMPRSS2, a key
processing enzyme essential for viral infection. Here, we analyzed the
allele frequencies of two nonsynonymous variants rs12329760 (V197M) and
rs75603675 (G8V) in the TMPRSS2 gene using over 200,000 present-day and
ancient genomic samples. We found a significant association between the
CFR of COVID-19 and the allele frequencies of the two variants.
Interestingly, they had opposing effects on the CFR: inverse correlation
by V197M, proportional correlation by G8V. East Asians have higher V197M
and lower G8V allele frequencies than Europeans, possibly endowing
resistance against SARS-CoV-2. Structural and energy calculation
analysis of the V197M amino acid change showed that it destabilizes the
TMPRSS2 protein, possibly affecting its ACE2 and viral spike protein
processing negatively, ultimately resulting in reduced SARS-CoV-2
infection efficiency and CFR in East Asian ethnic groups.