Frequency of rs35803318 single nucleotide polymorphism of ACE2 gene among the Kazakhs

Abstract

In the article the results of genotyping of DNA samples obtained from the study participants on the single nucleotide
polymorphism (SNP) rs35803318 (C/T) of the ACE2 gene were presented. Genotyping was carried
out by real-time polymerase chain reaction (PCR) using the technique Amplification of the Refractory Mutation
System (ARMS). The frequencies of rs35803318 (C/T) genotypes and alleles in 96 representatives of the
Kazakh ethnic group living in the Karaganda region were analyzed. The ACE2 gene (angiotensin-converting
enzyme 2) was extensively investigated due to its role in susceptibility to infection by the SARS-CoV-2 virus
causing COVID-19. The ACE2 gene encodes a protein that serves as a receptor for the virus, and its variations
can affect a person's susceptibility to infection. The ACE2 protein plays a role in the regulation of angiotensin
and the effect on blood pressure. Therefore, there is a link between ACE2 gene polymorphisms, including
rs35803318, and the development of cardiovascular diseases. According to the results of our study,
the CT genotype (63.5 %) is the most common among Kazakhs, the CC genotype was 20.8 % and the
TT genotype was 15.6 %. The distribution of polymorphism alleles is as follows: allele C — 52.6 %, allele A
— 47.4 %.