The Study of Rs1800629 (G-308а) Polymorphism of the TNF Gene in Patients With Myocardial Infarction With Elevated St Segment

Зыков, М. В.; Makeeva, O. A.; Голубенко, М. В.; Кашталап, В. В.; Каретникова, В Н; Goncharova, I. A.; Кулиш, И. А.; Барбараш, Л. С.; Барбараш, О. Л.; Пузырёв, В. П.

doi:10.15829/1560-4071-2014-10-13-18

Cited by 5 publications

(4 citation statements)

References 10 publications

(13 reference statements)

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“…For alleles and genotypes of the G4682A polymorphism of the TNF gene (rs1800629), the frequency in Caucasians is as follows: the G/G genotype occurs in 64-84 % of cases, G/A occurs in 14-31 % of cases, and A/A occurs in 0.5-4.5 % of cases. In Caucasians of Siberia, the frequency of allele A is 10.2 % [5].…”

Section: Discussionmentioning

confidence: 99%

Genes Polymorphism in Children with Diseases of the Nervous System Living in the Conditions of the Far North of Russia

Mazunina¹,

Dolgikh²,

Luzhetsky³

2022

Proceedings of the Conference on Health and Wellbeing in Modern Society (CHW 2021)

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A comparative genetic examination of children with varying degrees of asthenization of the nervous system, living in the Far North of Russia was carried out. The polymerase chain reaction method on BioRAD CFX96 Real Time System was used to study the following polymorphisms: A1166C of AGTR1 angiotensin II receptor gene (rs5186), C1377T of calcitonin receptor gene CALCR (rs1801197), T/C of the clock period gene CLOCK (rs1801260) and G4682A of tumor necrosis factor (TNF) gene ( rs1800629). An associative relationship between these polymorphisms and the pathology of the nervous system in the climatic and geographic conditions of the Far North was established. Among the child population living in the Far North and having nervous system pathology a significant increase in the prevalence of variant alleles of genes providing the genetic determination of the development of asthenic-vegetative syndrome was shown due to angitensinogen associated processes of impaired cerebral vascular tone (AGTR1 rs5186), imbalance of seasonal and circadian rhythms underlying the processes of fatigue (CLOCK rs1801260), as well as impairment of optimal reception of processes of cell membrane regulation of the apoptosis procedure (CALCR rs1801197, TNF rs1800629).

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Section: Discussionmentioning

confidence: 99%

Genes Polymorphism in Children with Diseases of the Nervous System Living in the Conditions of the Far North of Russia

Mazunina¹,

Dolgikh²,

Luzhetsky³

2022

Proceedings of the Conference on Health and Wellbeing in Modern Society (CHW 2021)

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“…Напротив, в работе Зыкова М. В. и др. носительство генотипа АА было ассоциировано с большей экспрессией гена и высокими значениями цитокина, хотя частота носительства аллеля А между исследуемой и контрольной группами не отличалась [22]. Противоречивость данных может объясняться популяционными особенностями распределения частот аллелей, даже незначительные изменения которых для низкополиморфных локусов могут иметь критическое значение.…”

Section: результатыunclassified

Gene polymorphism and serum levels of some angiogenic growth factors and pro- and anti-inflammatory cytokines in patients with post-infarction cardiac remodeling

Nikolaeva,

Babushkina,

Ryabova

et al. 2024

Russ J Cardiol

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Aim. To investigate the polymorphic variants of IL10, FGF2, VEGFD, TRAIL, SELE, TNFA and TNFβ genes in patients with primary ST-segment elevation myocardial infarction (MI) (STEMI) and to evaluate their association with late post-infarction cardiac remodeling.Material and methods. The study includes 74 patients age 61±10,7 years with primary STEMI. Percutaneous coronary intervention with restoration of infarct-related artery patency was performed in all patients after 60 (40; 80) minutes since admission to the hospital. Serum levels of fibroblast growth factor (FGF), interleukin-10 (IL-10), tumor necrosis factor family cytokines (TNF-α, TNF-β and tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)) were measured with the Multiplex Instrument FLEXMAP 3D system (Luminex Corporation) and the MILLIPLEX Human Cytokine/Chemokine Panel II on the 1st, 7th day of early post-MI period and after 6 and 12 months. The late adverse cardiac remodeling was determined after 12 months of long-term post-MI period according to 2D echocardiography. The increase in left ventricular end-diastolic volume by 15% or more by 12 months was considered late adverse cardiac remodeling. The patients were genotyped by 16 single-nucleotide polymorphisms (SNPs) in the TNFβ, TNF, Il10, TNFRSF1B, VEGFD, TRAIL, FGF2, SELE genes.Results. Adverse cardiac remodeling occurred in 19 patients (25,7%). The genetic association analysis revealed the significant association of rs1800629 TNFA (χ2=4,748; p=0,029), rs5353 SELE (χ2=10,85; p=0,004) and rs6632528 VEGFD (χ2=8,127; p=0,017) with an increased risk of STEMI. Higher concentration of IL-10 was detected on the 7th day of MI (p=0,05) and 6 months later (p=0,028) in A/T rs3024492 genotype carriers, as well as FGF in T/T rs13122694 genotype carriers by the 6th month after the event (p=0,04). The dependence of the main LV indicators on the distribution of polymorphism genotypes rs3024492 IL10, rs13122694 FGF2 and rs4830939 VGEFD was discovered. In the first 24 hours of MI in rs3024492 IL10 heterozygotes, LV contractile function was worse in comparison with T/T genotype carriers. Also, carriers of the T/T rs13122694 FGF2 genotype were distinguished by higher LV ejection fraction, longitudinal global LV deformation and lower of LV end-systolic index in the early post-infarction period. In the long-term post-infarction period, T/T rs4830939 VEGFD carriers differed in a greater LV dilation than carriers of the C/C and C/T genotypes.Conclusion. The study showed the contribution of polymorphism of the inflammation system genes to a predisposition to STEMI — both at the levels of phenotype and individual signs.

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“…Как в идно из табл. 3, частота дикого гомозиготного генотипа G/G гена TNF-α у пациентов I группы оказалась ниже, чем у условно здоровых детей (79 против 85,4% Из литературных данных известно, что для аллелей и генотипов полиморфизма G-308A гена TNF-α характерны некоторые различия частот между этническими группами [15,16]. Согласно этим данным, для монголоидов частота встречаемости неблагоприятного генотипа А/А составляет 0-2% [15].…”

Section: таблица 1 распределение частот аллелей и генотипов полиморфн...unclassified

The Role of Polymorphic Markers of Cytokine Genes in the Development and Course of Recurrent Bronchitis in Children with Thymomegaly

Шарипова,

Маматкулова,

Бахронов

2023

Педиатрия. Восточная Европа

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Введение. Лимфатический диатез у детей, сопровождающийся тимомегалией, характеризуется снижением адаптационных возможностей организма, а также способствует развитию болезней. С этой точки зрения интересно было изучить риск развития рецидивирующего бронхита (РБ) у детей с тимомегалией, а также клинические особенности его течения. Цель. Установить клинические особенности рецидивирующего бронхита у детей с тимомегалией в зависимости от полиморфных маркеров генов TNF-α (-308) G/A, IL-6 (-174) C/G, IL-1β (-31) T/C, IL-10 (-592) C/A и IL-4 (-589) C/T. Материалы и методы. В исследование были включены 57 детей в возрасте от 2 до 7 лет с рецидивирующим бронхитом с тимомегалией – основная I группа. II группу контроля составили 110 условно здоровых детей того же возраста. Тимомегалию I степени (КТТИ 0,33–0,36) выявили у 15 (26,3%) пациентов, II степени (КТТИ 0,37–0,42) – у 20 (35,1%) и III степени (КТТИ 0,43 и более) – у 22 (38,6%) пациентов. Проведен анализ ассоциативной связи полиморфных вариантов генов rs1143627 IL-1β, rs18000629 ФНО-α, rs 1800795 IL-6, rs 2243250 IL-4 и rs 1800872 IL-10 с риском развития рецидивирующего бронхита у пациентов узбекской национальности, кроме того, изучено влияние генетического полиморфизма на клиническое течение рецидивирующего бронхита и выраженность основных симптомов, характерных для этой патологии. Результаты. Результаты исследования полиморфизма rs1143627 гена IL-1β показали, что шанс обнаружения функционального неблагоприятного аллеля С у детей II группы повышался в 1,8 раза (95% СI 1,118–3,022). Анализ распределения частоты неблагоприятного С/С генотипа полиморфизма T-31C гена IL-1β у пациентов I группы определялся достоверно чаще (15,8% RR=2,2; 95% CI 0,885–5,324, χ2=2,98; р=0,05). Частота распределения аллелей C и T гена IL-4 в I группе пациентов показала достоверное увеличение частоты неблагоприятного аллеля T (RR=2,9; 95% CI 0,851–9,845, χ2=9,22; р=0,002). Анализ распределения гомозиготного генотипа C/C также показал его достоверное снижение в I группе пациентов по сравнению с группой контроля (RR=0,7; 95% CI 0,518–0,926, χ2=7,69; р=0,01), что является маркером высокого риска развития РБ у детей с тимомегалией. Показатели гетерозиготного носительства C/T генотипа имели достоверное повышение у пациентов I группы (ОR=2,0; 95% CI 1,002–3,915, χ2=3,93; р=0,05). Выводы. Генетическим маркером риска развития рецидивирующих бронхитов у детей с тимомегалией является аллель С и генотип СС полиморфизма (-31) гена IL-1β, аллель Т и генотипы СТ/ТТ полиморфизма (-589) гена IL-4. Ассоциация между полиморфными вариантами генотипа СС полиморфизма (-31) гена IL-1β, генотипа СТ (-589) гена IL-4, генотипа СG (-174) гена IL-6 и генотипа G/А (-308) гена TNF-α у пациентов с рб с тимомегалией является маркером тяжелого течения заболевания. Introduction. Lymphatic diathesis in children, accompanied by thymomegaly, is characterized by a decrease in the body’s adaptive capabilities and also contributes to the development of diseases. From this point of view, it was interesting to study the risk of developing recurrent bronchitis in children with thymomegaly, as well as the clinical features of its course. Purpose. Establish the clinical features of recurrent bronchitis in children with thymomegaly depending on the polymorphic markers of the genes TNF-α (-308) G/A, IL-6 (-174) C/G, IL-1β (-31) T/C, IL- 10 (-592) C/A and IL-4 (-589) C/T. Materials and methods. The survey included 57 children aged 2 to 7 years of recurrent bronchitis with thymomegaly, the main group I. Control group II consisted of 110 conditionally healthy children of the same age. Thymomegaly I degree (CTTI 0.33–0.36) was detected in 15 (26.3%) patients, II (CTTI 0.37–0.42) – at 20 (35.1%) and III degree (CTTI 0.43 or more) – in 22 (38.6%) sick children. An analysis of the association of polymorphic variants of the genes rs1143627 IL-1β, rs18000629 TNF-α, rs 1800795 IL-6, rs 2243250 IL-4 and rs 1800872 IL-10 with the risk of developing recurrent bronchitis in the Uzbek nationality was carried out. And also studied the influence of genetic polymorphism on the clinical course of recurrent bronchitis and the severity of the main symptoms characteristic of this pathology. Results. The results of the study of the rs1143627 polymorphism of the IL-1β gene showed that the chance of detecting a functional unfavorable allele C in children of group increased by 1.8 times 95% (CI 1.118–3.022). Analysis of the frequency distribution of the unfavorable C/C genotype of the T-31C polymorphism of the IL-1β gene in patients of group I was determined significantly more often (15.8% RR=2.2; 95% CI 0.885–5.324, χ2=2.98; p=0.05). The distribution frequency of the C and T alleles of the IL-4 gene in group I patients showed a significant increase in the frequency of the unfavorable T allele (RR=2.9; 95% CI 0.851–9.845, χ2=9.22; p=0.002). An analysis of the distribution of the homozygous C/C genotype also showed a significant decrease in the I-group of patients compared with the control group (RR=0.7; 95% CI 0.518–0.926, χ2=7.69; p=0.01), being a marker of a high risk of developing recurrent bronchitis in children with thymomegaly. Indicators of heterozygous carriage of the C/T genotype had a significant increase in patients of group I (OR=2.0; 95% CI 1.002–3.915, χ2=3.93; p=0.05). Conclusions. A genetic marker for the risk of developing recurrent bronchitis in children with thymomegaly is the C allele and genotype, CC polymorphism (-31) of the IL-1β gene, T allele and CT/TT genotypes of the polymorphism (-589) of the IL-4 gene. Association between polymorphic variants of the CC genotype of polymorphism (-31) of the IL-1β gene, the CT genotype (-589) of the IL-4 gene, the CG genotype (-174) of the IL-6 gene, and the G/A genotype (-308) of the TNF-α gene in patients recurrent bronchitis with thymomegaly are a marker of the severe course of the disease.

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The Study of Rs1800629 (G-308а) Polymorphism of the TNF Gene in Patients With Myocardial Infarction With Elevated St Segment

Cited by 5 publications

References 10 publications

Genes Polymorphism in Children with Diseases of the Nervous System Living in the Conditions of the Far North of Russia

Genes Polymorphism in Children with Diseases of the Nervous System Living in the Conditions of the Far North of Russia

Gene polymorphism and serum levels of some angiogenic growth factors and pro- and anti-inflammatory cytokines in patients with post-infarction cardiac remodeling

The Role of Polymorphic Markers of Cytokine Genes in the Development and Course of Recurrent Bronchitis in Children with Thymomegaly

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