Variants of the ACE2 Gene: The SARV-CoV2 Receptor in Different Human Populations

Document Type : Mini Review


1 Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS 91501-970, Brazil

2 Faculdade de Saude de Paulista, Department of BiologicalSciences, Paulista, PE53403-740, Brazil


In December 2019, a respiratory disease called Coronavirus Disease 2019 (COVID-19) emerged in Wuhan, China. In the
following year, it was considered as a pandemic caused by SARS-CoV-2, an RNA virus belonging to the Coronaviridae family.
Asymptomatic patients are the main spreaders of the infection as well as obstacles to control the disease that can progress to death. Currently, it is believed that the Angiotensin-Converting Enzyme 2 (ACE2) acts as a receptor for the penetration of SARSCoV-2 into the human cell. Therefore, this review aims to summarize the variability of the genetic variants of ACE2 with the usceptibility to SARS-CoV-2/COVID-19 in different human populations. In two studies, ACE2 expression in Asians was found to be similar to that of other ethnicities. We observed populations with different variants of ACE2 with single nucleotide polymorphism (dbSNP) that causes inter-individual variability and susceptibility to COVID-19. The dbSNP rs4646116 was found in the Finnish and Latin populations; rs4646127 in Asia, Europe, and the Americas; and rs228566 (c.439+4G>A) was found in South-East Asia (MAF = 0,548%). In Italy, three missense variants of ACE2 (p.(Asn720Asp), p.(Lys26Arg) and p. (Gly211Arg)) interfere with the stabilization of the coronavirus spike protein. Given the studies concerning the genetic variations of ACE2 and SARVS-CoV-2, it is possible to assume the consequences for the pathophysiology of COVID-19, formulate therapies, and develop specific vaccines according to the recognized variants, to reduce the severity and the lethality of the disease in the affected countries.