Frequency of Cytokine Gene Polymorphism in Full-Term Newborns with Hypoxic Events

Background. An infant brain damage is an extremely urgent problem, this pathology is difficult to prevent, and subsequently it manifests itself with a variety of neurological consequences. Various mechanisms are involved in neurodamage; cytokines, as well as genes that control their activity, are under a great concern today. However, there is little data about their role as predictors of the brain damage among children after hypoxia. Aim of the research. To identify the frequency of cytokine gene polymorphism: interleukin (IL)-1β(C-511T), IL-1β(C3953T), IL-4(C589T), IL-6(C174G), IL-10(C819T), IL-10(G1082A) among newborns with hypoxic events. Materials and methods. The study involved 128 full-term newborn patients with hypoxic events: the first group (n = 48) included newborns who experienced chronic intrauterine hypoxia (CVH), the second group (n = 80) included newborns born in asphyxiation. Control group (52) included babies born without asphyxia and not suffering from CVH. A retrospective analysis of case-records was carried out. The material for molecular genetic analysis was DNA samples isolated from umbilical cord blood leukocytes using DNA Express Blood reagents (Scientific and Production Company LITECH, Moscow). Results. Compared to the control group (p = 0.03) children born in asphyxia had their T allele IL-1β (C-511T) prevailed. The group of newborn who had CVH had their TT genotype (p = 0.04) and the T IL-1β allele (C-511T) (p = 0.01) prevailed compared to the control group. In the same study group while studying the polymorphism of the IL-1β gene, the T allele (p = 0.03) at the point C3953T prevailed, in contrast to the control group. Conclusion. Due to the fact that cytokines are part of a reaction cascade leading to the secondary brain damage, under the action of hypoxia, it was found that among newborns undergoing asphyxia and chronic intrauterine hypoxia the increased frequencies of carriage of IL-1β-511TT and IL-1β-3953TT genotypes, and IL-1β-511T and IL-1β-3953T alleles increase the risk of neurodamage.

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Efficacy of treatment of extensive drug resistant tuberculosis in patients with different genotypes in the biotransformation enzyme genes of CYP2B6 and NAT2

Tuberculosis and lung diseases ◽

10.21292/2075-1230-2020-98-6-40-46 ◽

2020 ◽

Vol 98 (6) ◽

pp. 40-46

Author(s):

M. M. Yunusbаevа ◽

L. Ya. Borodinа ◽

F. S. Bilаlov ◽

R. A. Shаripov ◽

T. R. Nаsibullin ◽

...

Keyword(s):

Molecular Genetic ◽

Molecular Genetic Analysis ◽

Patient Treatment ◽

Control Group ◽

Drug Resistant ◽

Blood Leukocytes ◽

Drug Resistant Tuberculosis ◽

Polymorphic Loci ◽

Resistant Tuberculosis ◽

Efficacy Of Treatment

The objective of the study: to evaluate the efficacy of treatment of extensive drug resistant tuberculosis (XDR-TB) in patients with different genotypes in the biotransformation system NAT2 (rs1041983, rs1799930, rs1799931, rs1801280) and CYP2B6 genes (rs3745274).Subjects and methods. The study involved patients undergoing in-patient treatment at Republican Clinical TB Dispensary in Ufa from 2016 to 2018. XDR TB group included 210 people; the control group included 343 healthy donors. Molecular genetic analysis was performed on DNA samples isolated from peripheral blood leukocytes. Genotyping of polymorphic loci was carried out by kompetitive allele specific PCR (KASP).Results. It was revealed that polymorphic loci rs1799931 of NAT2 gene and rs3745274 of CYP2B6 gene were associated with the risk of developing XDR TB. Regression analysis detected combinations of the predictor genotypes of rs1799931*G/A × rs3745274*G/T and rs1799931*G/G × rs37455274*(G/G+T/T), that significantly reduce efficacy of XDR TB treatment.

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Effect of IL4-589C>T, FCGR2A-166His>Arg, DEFB1-20G>A, DEFB1-52G>A gene polymorphisms on TNFα, IL-1β, IL-4, and IL-10 contents in the patients with primary hip osteoarthrosis

Medical Immunology (Russia) ◽

10.15789/1563-0625-eoi-2034 ◽

2020 ◽

Vol 22 (5) ◽

pp. 1009-1016

Author(s):

A. M. Miromanov ◽

T. V. Zabello ◽

N. A. Miromanova

Keyword(s):

Gene Polymorphism ◽

Gene Polymorphisms ◽

Inflammatory Diseases ◽

Molecular Genetic ◽

Vascular Diseases ◽

Fold Increase ◽

Molecular Genetic Analysis ◽

Radiographic Examination ◽

Control Group ◽

Hip Joints

Our objective was to study the effects of IL4-589C>T, FCGR2A-166His>Arg, DEFB1-20G>A, DEFB1-52G>A gene polymorphisms upon content of TNFα, IL-1β, IL-4, and IL-10 in primary osteoarthrosis of the hip joints. We performed a survey of 100 patients of Russian ethnicity (average age 61.3±8.5 years) with primary coxarthrosis at the stage III-IV who lived in the Trans-Baikal region. The control group (n = 100), were local residents, comparable by age (60±8.3 years), gender, habitation place and nationality. The exclusion criteria were as follows: close relationship; other types of osteoarthritis (post-traumatic, rheumatoid, metabolic, etc.); dysplastic syndromes and phenotypes; acute and chronic inflammatory diseases at the exacerbation stage; diabetes mellitus; osteoporosis; vascular diseases; obesity; malignant neoplasia; alcohol abuse. Along with clinical examination, the following laboratory methods were applied: immunological techniques, i.e., determination of TNFα, IL-1β, IL-4, IL-10; genetic testing using polymerase chain reaction, e.g., a point mutation of the IL4 gene at the 589(C>T) position, FCGR2A at 166(His>Arg) site, DEFB1 at the 20(G>A) and 52(G>A) positions. DNA from the peripheral blood of patients was used for the molecular genetic analysis. Radiographic examination was also carried out. The data were statistically processed using STATISTICA 6.1 software package (StatSoft, USA), Microsoft Office Excel 2019 for Windows 10. The differences were considered statistically significant at p ≤ 0.05. Results. The -589T/T genotype of IL4-589C>T gene polymorphism indirectly contributes to higher content of TNFα and IL-1β for primary osteoarthritis of the hip joints. The patients with -166Arg/Arg genotype have a 1.3-fold increase of certain cytokine concentrations, e.g., TNFα and IL-1β, as compared with -166His/Arg genotype, and, conversely, lower content of IL-4 and IL-10 (1.3- fold) in comparison with -166His/His genotype. The patients with -20A/A genotype showed higher levels of TNFα and IL-1β, respectively, 1.2 and 1.3 times, compared with -20G/G genotype, and 1.3 times versus the -20G/A genotype. Conclusions: 1. The presence of -589T/T genotype of the IL4-589C>T gene polymorphism and the -20A/A genotype of the DEFB1-20G>A gene polymorphism contributes to a high content of TNFα and IL-1β in the blood serum, and the carriage of -166His/His FCGR2A-166His>Arg gene polymorphism is associated with both higher level of TNFα, IL-1β, and a low concentration of IL-4, IL-10. 2. Complex carriers of FCGR2A166HisArg x DEFB152AA x DEFB120AA x IL4589TT genotypes in the patients with primary coxarthrosis increases the contents of TNFα, IL-1β cytokines by 1.5 and 1.7 times, respectively.

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Cytokine gene polymorphism in human disease: on-line databases, Supplement 1

Genes and Immunity ◽

10.1038/sj.gene.6363733 ◽

2001 ◽

Vol 2 (2) ◽

pp. 61-70 ◽

Cited By ~ 188

Author(s):

J Bidwell ◽

L Keen ◽

G Gallagher ◽

R Kimberly ◽

T Huizinga ◽

...

Keyword(s):

Gene Polymorphism ◽

Human Disease ◽

Cytokine Gene ◽

Cytokine Gene Polymorphism ◽

On Line

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POLYMORPHISM OF GENE IL2-330Т>>G AND EXPRESSION OF INTERLEUKIN-2 IN PATIENTS WITH VENOUS THROMBOEMBOLIC COMPLICATIONS OF POLYTRAUMA

Тромбоз, гемостаз и реология ◽

10.25555/thr.2017.3.0801 ◽

2017 ◽

Author(s):

А. Мироманов ◽

В. Доржеев ◽

Н. Мироманова ◽

Ю. Витковский

Keyword(s):

Molecular Genetic ◽

Interleukin 2 ◽

Clinical Manifestations ◽

Molecular Genetic Analysis ◽

Control Group ◽

Thromboembolic Complications ◽

Inclusion Criteria ◽

Study Results ◽

Venous Thromboembolic ◽

Analysis Point

Введение. Политравма отличается особой тяжестью клинических проявлений, сопровождается значительным нарушением жизненно важных функций организма, трудностью диагностики и лечения, частым развитием разнообразных осложнений, длительным периодом пребывания в стационаре и высокой инвалидизацией. Тромбоэмболические осложнения при политравме встречаются в 40–77% случаев и характеризуются скрытым клиническим течением, трудностью лечения и высокой летальностью. Цель исследования. Изучить влияние полиморфизма гена IL2-330T{>{G на экспрессию интерлейкина-2 (IL-2) у пациентов с венозными тромбоэмболическими осложнениями (ВТЭО) политравмы в Забайкальском крае. Материалы и методы. В исследование включено 114 пациентов (71,9% мужчин и 28,1% женщин) в возрасте от 20 до 40 лет с политравмой. Критерий включения в исследование: политравма с индексом по шкале ISS более 9. Первая группа — 73 пациента с неосложнённым течением политравмы, вторая группа — 41 пациент с ВТЭО политравмы. Контрольную группу составили 100 практически здоровых мужчин и женщин в возрасте от 20 до 40 лет. Материалом для молекулярно-генетического анализа служили образцы ДНК, выделенные из периферической крови. Для исследования выбрана точковая мутация IL-2 в позиции 330 (Т{>{G). Результаты. У пациентов с ВТЭО политравмы регистрировали более частое носительство генотипа -330T/T гена IL2; наличие этого генотипа сопровождалось увеличением продукции IL-2. Заключение. Идентификация генов и раскрытие их влияния на экспрессию кодируемых молекул способствует более глубокому пониманию патогенетических механизмов развития осложнений. Introduction. Polytrauma is characterized by a specifi c severity of clinical manifestations, is accompanied by a signifi cant impairment of vital body functions, the diffi culty of diagnosis and treatment, frequent development of various complications, prolonged period of hospitalization and high disability. Thromboembolic complications of polytrauma occur in 40–77% of cases and characterized by latent clinical course, diffi culties in treatment and high mortality. The aim was to study the eff ect of gene IL2-330T{>{G polymorphism on the expression of interleukin-2 (IL-2) at patients with venous thromboembolic complications (VTE) of polytrauma in Zabaykalskiy Krai. Materials and methods. The study included 114 patients (71,9% men and 28,1% women) with polytrauma aged from 20 to 40 years. Inclusion criteria: polytrauma with index according ISS scale more than 9. First group — 73 patients with uncomplicated polytrauma, second group — 41 patients with VTE of polytrauma. Control group consisted of 100 practically healthy men and women aged from 20 to 40 years. DNA samples isolated from the peripheral blood were the material for molecular genetic analysis. Point mutation of IL-2 at position 330 (T{>{G) was selected for study. Results. Genotype -330T/T of IL2 gene was registered more frequently at patients with VTE of polytrauma; the presence of this genotype was accompanied by increased production of IL-2. Conclusion. Identifi cation of genes and their eff ects on the expression of encoded molecules assists more overall understanding of pathogenetic mechanisms of complications development.

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