ACE I/D genetic polymorphism as a risk factor of essential hypertension

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K.G. Starkova, О.V. Dolgikh, О.А. Kazakova, Т.А. Legostaeva


Federal Scientific Center for Medical and Preventive Health Risk Management Technologies, 82 Monastyrskaya Str., Perm, 614045, Russian Federation


Examining genetic mechanisms of essential hypertension as a cardiovascular risk factor will make it possible to provide monitoring of public health using a personified approach to early diagnostics of cardiovascular pathologies. This will raise effectiveness of preventive activities aimed at reducing population mortality.

Our research goal was to examine features of ACE (the angiotensin-converting enzyme) I/D gene polymorphism (rs4646994) as a risk factor of essential hypertension.

Our test group included 35 people with diagnosed essential hypertension; the reference group was made of 34 relatively healthy people. Lipid spectrum indicators were estimated with an automated or semi-automated analyzer or by calculation. Insulin and cytokines were determined by using the enzyme immunoassay. Genotyping was performed by using the polymerase chain reaction in real time mode.

The research results revealed that the examined patients with essential hypertension had authentic differences from the reference group regarding BMI, lipid spectrum indicators with very low density lipoproteins and triglycerides contents being by 1.3 times higher; insulin contents, by 1.9 times higher; IL-6 contents, by 2.2 times higher; and VEGF, by 1.4 times higher. Genetic analysis revealed 1.3-time higher prevalence of the D-allele of the ACE I/D gene in the patients with essential hypertension (we showed that the dominant inheritance was adequate, P = 0.041). The carriage of this allele was associated with the analyzed disease (OR = 3.16; 95 % CI = 1.08–9.20).

We showed an association between insertion-deletion polymorphisms of the ACE (the angiotensin-converting enzyme) I/D gene and developing essential hypertension in the examined test group (the relative risk was RR = 1.87; 95 % CI =1.07–3.61). This polymorphism can be considered a potential marker of sensitivity to developing essential hypertension.

essential hypertension, angiotensin converting enzyme, ACE I/D polymorphism, dyslipidemia, pro-inflammatory cytokines
Starkova K.G., Dolgikh О.V., Kazakova О.А., Legostaeva Т.А. Ace I/D genetic polymorphism as a risk factor of essential hypertension. Health Risk Analysis, 2022, no. 3, pp. 169–175. DOI: 10.21668/health.risk/2022.3.16.eng
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