Scientifiic principles of use of biomarkers in medico-ecological studies (review)

Zaitseva, Nina V.; Владимировна, Зайцева Нина; Землянова, М. А.; Александровна, Землянова Марина; Chashchin, V. P.; Петрович, Чащин Валерий; Gudkov, A. B.; Борисович, Гудков Андрей

doi:10.33396/1728-0869-2019-9-4-14

“…Аллергические заболевания становятся одними из самых распространенных хронических заболеваний в современном обществе, своевременная диагностика и подбор адекватных стратегий лечения которых представляют серьезную проблему для здравоохранения в XXI в., поскольку недостаточная терапия приводит к значительному снижению работоспособности, влияя на здоровье и качество жизни людей. Существует необходимость всестороннего научного исследования возможных дополнительных и альтернативных подходов, которые позволят реализовать персонализированное направление в медицине с детальным изучением отдельных патогенетических звеньев и индивидуальной чувствительности организма на основе применения молекулярно-генетических методов прогнозирования и мониторинга развития заболевания [3,[24][25][26].…”

Section: т а б л и ц аunclassified

Risk of allergy and its immune phenotypes in children with MMP9 Q279R gene polymorphism

Starkova¹,

Dolgikh²,

Legostaeva³

et al. 2022

Health Risk Analysis

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Scientific research with its focus on allergic diseases relies on up-to-date molecular-genetic methods for identifying individual genetic variability; it seems an important stage in the implementation of programs with their aim to early detect and mitigate risks of such diseases. In this study, our aim was to identify features of immune regulation associated with Q279R MMP9 gene polymorphism (rs17576) and benzene contamination in biological media in children with allergic diseases. The test group included 33 children with allergic diseases; the reference group consisted of 40 relatively healthy children. CD-markers were identified with flow cytometry. Genotyping was performed with a real-time polymerase chain reaction. The research revealed elevated levels of total IgE, IL-4 and TNFalfa under elevated benzene contamination in biological media that were by 1.2–4.2 times higher in the examined children with allergic diseases than in the reference group (р = 0.006–0.03). Q279R MMP9 gene polymorphismin in children from the test group had authentically more frequent oc-currence of the GG and AG genotypes, by 1.7 times higher than in the reference group. This allows considering the allele G of the MMP9 gene as a sensitivity marker in children with allergic diseases (OR = 2.34; 95 % CI = 1.17–4.65). We established a growth by 2.8 times in total IgE level and greater IL-4 and TNFalfa expression, by 1.4 and 1.3 times accordingly, in carriers of the allele G against those carrying the homozygote AA genotype among the examined children with allergic diseases (р = 0.020–0.042). Logistic regression analysis established the adequacy of the dominant model (p = 0.01) and revealed a possible association between carriage of the AG and GG genotypes of Q279R MMP9 gene polymorphism and developing allergy (OR = 3.61; 95 % CI = 1.34–9.71). A risk of developing allergy combined with benzene contamination in biological media and gene polymorphism of matrix metalloproteinase MMP9 (rs17576) is by 2.1 times higher for the allele G carriers against the AA genotype carriers (RR = 2.08; 95 % CI = 1.13–3.83). This allows considering the allele G of the MMP9 Q279R gene as a sensitivity marker in children with allergic diseases.

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“…Многие исследования показывают существенные различия в распределении полиморфизма гена ACE D/I между разными этническими группами и даже внутри одной этнической группы. В то же время необходимо также учитывать возможность генных взаимодействий и роль эпигенетической изменчиво-сти, в том числе в условиях влияния факторов среды обитания, в формировании наследственной предрасположенности [3,7,[21][22][23][24][25].…”

unclassified

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

Starkova¹,

Dolgikh²,

Kazakova³

et al. 2022

Health Risk Analysis

0

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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.

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“…Many studies have established significant differences in distribution of ACE D/I gene polymorphism between various ethnic groups and even within the same ethnic group. At the same time, it is necessary to consider possible genetic interactions and a role played by epigenetic changeability, including that occurring under influence of environmental factors, in formation of hereditary predisposition [3,7,[21][22][23][24][25].…”

mentioning

confidence: 99%

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

Starkova¹,

Dolgikh²,

Kazakova³

et al. 2022

Health Risk Analysis

1

0

View full text Add to dashboard Cite

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.

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Scientifiic principles of use of biomarkers in medico-ecological studies (review)

Cited by 17 publications

References 27 publications

Risk of allergy and its immune phenotypes in children with MMP9 Q279R gene polymorphism

Risk of allergy and its immune phenotypes in children with MMP9 Q279R gene polymorphism

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

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

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