Angiotensin-converting enzyme gene insertion/deletion (I/D) polymorphism in Azerbaijan population

Research article: Angiotensin-converting enzyme gene insertion/deletion (I/D) polymorphism in Azerbaijan population

Authors: G.R. Alibayova, S.M. Rustamova, L.A. Akhundova, N.Sh. Mustafayev, I.M. Huseynova*

Institute of Molecular Biology and Biotechnologies, Azerbaijan National Academy of Sciences, 11 Izzat Nabiyev Str., Baku AZ 1073, Azerbaijan

*For correspondence: imbb@science.az

Received 22 October 2020; Received in revised form 02 November 2020; Accepted 02 November 2020

Abstract: 

Angiotensin-converting enzyme (ACE) is a key enzyme of the renin-angiotensin-aldosterone system (RAAS), which is directly involved in the regulation of blood pressure. It is assumed that the inser- tion/deletion (I/D) polymorphism of the gene of this enzyme (ACE gene) appears due to the pres- ence/absence of ~ 287 bp Alu repeats in the 16th intron and is associated with the risk of the develop- ment of some diseases, including cardiovascular diseases, various kinds of mental disorders, Alzhei- mer's disease, gestational diabetes, etc. Given the lack of data on ACE gene I/D polymorphism for the Azerbaijan population, we studied polymorphism of this gene by PCR, using sequence specific pairs of primers (Hace3s and Hace3as (I), ACE-F and ACE-R (II)). DNA samples isolated from 346 individuals were divided into 4 groups: (1) patients with various mental disorders (90 patients); (2) a group of young students involved in various sports (84 male persons); (3) patients with diabetes (28 patients with I type DM (3A subgroup) and 72 patients with II type DM (3B subgroup); (4) a group of conditionally healthy people of different ages and specialties (72 persons, control). Based on the results of PCR of both primer pairs, the following genotypes were obtained: 16 individuals with gen- otype II (4.6%, homozygous co-dominants for the I-allele), 101 individuals with genotype DD (29.2%, homozygous co-dominants for the D-allele) and 228 individuals with genotype ID (66.2%, heterozy- gotes for both alleles). The frequency of occurrence was: fI=0.373, fD=0.627, ND:NI=1.681. The ratio of separate genotypes within the studied population: ID:DD=2.173; ID:II=14.125; DD:II=6.500. Comparison of the values of the dominant model for the allele D - (DD+ID)/II=20.625 and the reces- sive model DD/(ID+II)=0.430 relative to the dominant model for the allele I - (II+ID)/DD=1.152 and the recessive model II/(ID+DD)=0.048 indicates that in both models the probability of the D allele to associate with any particular trait is higher than that of the I allele (17.904 and 8.958 times, respec- tively). These results confirm the literature data on the association of the D allele with many pathol- ogies or diseases. The analysis of the obtained data also revealed a significant correlation (p≤0.01) of the studied features from the D allele both within groups and between groups.

Keywords: Renin-angiotensin-aldosterone system (RAAS), angiotensin-converting enzyme (ACE), inser- tion, deletion, hypertension, psychiatric disorders, diabetes mellitus (DM), polymorphism, co-dominant, homozygote, heterozygote, COVID-19

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