scholarly journals Polymorphism of some genes of bone tissue metabolism (VDR Bsm1 c.IVS7G>A, LCT 13910 T>C, COL1A 12046 G->T) among the representatives of Russian and Buryat nationalities

2017 ◽  
Vol 20 (1) ◽  
pp. 3-6
Author(s):  
Svetlana V. Verkhoturova ◽  
Svetlana U. Tsarenok ◽  
Vladimir V. Gorbunov ◽  
Tatyana A. Aksenova
Keyword(s):  
Indigenous Population ◽  
Statistical Significance ◽  
Receptor Gene ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Control Group ◽  
Collagen Gene ◽  
Age Group ◽  
Lactase Gene

Aim: to study the frequency of genotypes of the polymorphous markers of bone remodeling (vita-min D receptor gene Bsm1 c.IVS7G> A, the lactase gene LCT 13910 T> C and collagen gene COL1A 12046 G-> T) in healthy people and patients with osteopo-rosis (OP) among the indigenous population of Trans-baikalia of Russian and Buryat nationalities. Methods: 97 women with OP were examined: 49 Russian and 48 Buryat women aged from 50 to 80 years. 123 healthy women of the same age group were included in the control group. DNA sam-ples for molecular genetic analysis were taken from peripheral venous blood. Results: The recessive allele A of the VDR – Bsm1c.IVS7G> A polymorphism was accumulated in women of Buryat nationality, but the statistical significance was not observed (OR = 1.04, CI [0 68, 1.6]). C al-lele of LCT -13910 T> C polymorphism was associated with the development of OP among the representa-tives of Buryat nationality. Conclusion: The gene allele VDR Bsm1 c.IVS7G> Aand the LCT -13910 T>C leads to a higher risk of OP in women of Buryat nationality. The genotypes G/Tand T/T of COL1A12046 G-> T are associated with the development of OP in people of both nationalities.

scholarly journals Association of single-­nucleotide polymorphisms rs10867772, rs4700290 with sudden cardiac death

2021 ◽  
Vol 17 (1) ◽  
pp. 7-11
Author(s):  
A. A. Ivanova ◽  
S. K. Malyutina ◽  
V. P. Novoselov ◽  
I. A. Rodina ◽  
O. V. Khamovich ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Single Nucleotide Polymorphisms ◽  
Cardiac Death ◽  
Statistical Significance ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genotype Frequencies

The aim of the research is to verify the association with sudden cardiac death (SCD) of single nucleotide polymorphisms rs10867772 and rs4700290, identified as new molecular genetic markers of SCD in the own genome-wide pooled allelotyping.Material and methods. Case-control study. The SCD group is formed using the criteria of the European Society of Cardiology from the DNA bank of suddenly deceased residents of the Oktyabrsky district of Novosibirsk (n = 437, average age—53.1 ± 9.0 years, men — 73.5%, women — 26.5%) The control group (n = 405, average age 53.2 ± 9.2 years, men — 70.0%, women — 30.0%) is formed from the DNA bank of participants of MONICA and HAPIEE projects. DNA was isolated by phenol-­chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was performed by the PCR-RFLP method.Results. No statistical significance was found in allele and genotype frequencies of rs10867772 and rs4700290 between groups, even in separating in sex and age (p> 0.05). Conclusion. Single nucleotide polymorphism rs10867772 and rs4700290 are not associated with SCD.

Molecular Genetic Analysis of the Ryanodine Receptor Gene (RYR1) in Korean Malignant Hyperthermia Families

2010 ◽  
Vol 30 (6) ◽  
pp. 702-710 ◽  
Author(s):  
Ho Lee ◽  
Dong Chan Kim ◽  
Jae Hyeon Lee ◽  
Yong Gon Cho ◽  
Hye Soo Lee ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Malignant Hyperthermia ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

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

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.

Role of genetic factors in the development of premenstrul syndrome

2018 ◽  
pp. 84-86
Author(s):  
L.V. Pakharenko ◽  
Keyword(s):  
Estrogen Receptor ◽  
Premenstrual Syndrome ◽  
Genetic Factors ◽  
Receptor Gene ◽  
Molecular Genetic ◽  
Modern Medicine ◽  
Molecular Genetic Analysis ◽  
Esr1 Gene ◽  
Pathological Variant

To identify risks of development of any disease is a priority of modern medicine. The article deals with ESR1 gene polymorphisms and its role in the development of premenstrual. The objective: of this study was to investigate the frequency of polymorphic variants of A-351G gene estrogen receptor ESR1 in patients with various forms of premenstrual syndrome. Materials and methods. Molecular genetic analysis of ESR1 gene polymorphism was determines in 50 women with premenstrual syndrome (25 women of them had edematous form of disease, 25 – neuropsychical one; 25 suffered from mild form, 25 – severe one). 25 women without diagnosis of premenstrual syndrome were examined as controls. Results. The study of A-351G polymorphism estrogen gene ESR1 demonstrated no statistically significant differences in the frequency of distribution of genotypes and alleles between women with premenstrual syndrome and without this pathology. However, the frequency of GG genotype in women with severe PMS was significantly higher in 8.0 times compared with healthy women (χ2=4.87; p=0.03) and in women with edematous form of PMS – in 7.0 times (χ2=3.72; p=0.05). Conclusion. Thus, a polymorphic variant of A-351G estrogen receptor gene ESR1 can be regarded as a marker for the development of premenstrual syndrome. Pathological variant GG genotype is significantly associated with the presence of edematous and severe forms of the disease. Key words: premenstrual syndrome, genetic factors, development.

scholarly journals Microbiological and biochemical characteristics of inflammatory tissues in the periodontium

Medicina ◽  
2008 ◽  
Vol 44 (3) ◽  
pp. 201 ◽  
Author(s):  
Algimantas Šurna ◽  
Jurgina Sakalauskienė ◽  
Astra Vitkauskienė ◽  
Viktoras Šaferis
Keyword(s):  
Alkaline Phosphatase ◽  
Gingival Crevicular Fluid ◽  
Periodontal Diseases ◽  
Venous Blood ◽  
Molecular Genetic ◽  
Individual Treatment ◽  
Control Group ◽  
Peripheral Venous Blood ◽  
Periodontal Inflammation ◽  
Crevicular Fluid

Objective. To investigate bacterial populations in subgingival and supragingival plaque samples of patients with inflammatory periodontal diseases and activities of the lysosomal enzymes – lysozyme, alkaline phosphatase, and b-glucuronidase – in peripheral venous blood, in gingival crevicular fluid, and mixed nonstimulated saliva. Methods and materials. The study included 60 patients with inflammatory periodontal diseases without any internal pathology and 24 periodontally healthy subjects. Molecular genetic assay (Micro-IDent plus, Germany) for complex identification of additional six periodontopathic bacteria was applied. The activity of lysozyme was determined turbidimetrically, the activity of alkaline phosphatase – spectrophotometrically with a “Monarch” biochemical analyzer, the activity b-glucuronidase – according to the method described by Mead et al. and modified by Strachunskii. Results. A statistically significant association between clinical and bacteriological data was found in the following cases: gingival bleeding in the presence of Eubacterium nodatum, Eikenella corrodens, Capnocytophaga spp. (P<0.01); pathological periodontal pockets in the presence of Peptostreptococcus micros (α≤0.05 and β≤0.2), Fusobacterium nucleatum (α≤0.05 and β≤0.2), Campylobacter rectus (α≤0.05 and β≤0.2), and Capnocytophaga spp. (P<0.05); and satisfactory oral hygiene in the presence of all microorganisms investigated (P<0.05). The activity of lysozyme in gingival crevicular fluid and mixed nonstimulated saliva indicates the severity of periodontal inflammation. Based on clinical data, in assessing the amount of lysozyme in mixed nonstimulated saliva, sensitivity and specificity of 100% was found. Increased activities of lysozyme, alkaline phosphatase, and b-glucuronidase were found in peripheral venous blood of patients with inflammatory periodontal disease as compared to control group. Conclusions. The main principles of the treatment of periodontal inflammatory diseases should be based on microorganism elimination, creation of individual treatment means affecting microflora in the mouth and immune system of macroorganisms.

scholarly journals VITAMIN D AND UROLITHIASIS IN CHILDREN

2021 ◽  
Vol 7 (1) ◽  
pp. 12-19
Author(s):  
Sh. A. Yusupov ◽  
A. M. Shamsiev ◽  
J. A. Shamsiev ◽  
P. A. Pulotov
Keyword(s):  
Vitamin D ◽  
Genetic Marker ◽  
Vitamin D Receptor ◽  
Statistical Significance ◽  
Receptor Gene ◽  
Control Group ◽  
Steady Increase ◽  
Vitamin D Receptor Gene ◽  
High Prevalence ◽  
Inheritance Model

Background. Urolithiasis is currently one of the topical issues of contemporary urology and medicine in general. This is primarily due to the high prevalence of urolithiasis; according to several population studies it ranges from 3.5 to 9.6%. At the same time, there is a steady increase in its incidence. Therefore, the matter of urolithiasis is one of the most urgent in present-day medicine. Objectives. The aim of the research was to study the content of a polymorphic genetic marker of the vitamin D receptor gene related to development and relapse of urolithiasis in children. Methods. The content of a polymorphic genetic marker of the vitamin D receptor gene related to development and relapse of urolithiasis in 100 children was investigated. Results. The results of the study prove that the vitamin D receptor gene assists in revealing disorders that promote urolithiasis development. Conclusion. Comparative analysis of the frequency of distribution of Fok1 genotypes of the vitamin D receptor gene polymorphism showed that statistical significance of the association (p=0.02) of f allele according to the dominant inheritance model (total Ff+ff genotypes) was established in the group of patients with urolithiasis compare to the corresponding indicator of the control group (63%).

scholarly journals Associations of SNP rs_7927894 of FLG gene and TARC/CCL17 with atopic dermatitis in children

2021 ◽  
pp. 12-18
Author(s):  
V.O. Dityatkovsky ◽  
◽  
O.E. Abaturov ◽  
N.V. Naumenko ◽  
O.O. Alifirenko ◽  
...  
Keyword(s):  
Atopic Dermatitis ◽  
Statistical Significance ◽  
Venous Blood ◽  
Clinical Signs ◽  
Main Group ◽  
Control Group ◽  
Serum Concentrations ◽  
Control Groups ◽  
And Control ◽  
Severity Degree

One of the main genetic factors of the development of atopic dermatitis (AD) in children are single nucleotide polymorphisms (SNP) of the filagrin gene (FLG), particularly rs_7927894 FLG. One of the mostly studied and promising AD marker chemokines (CK) is the thymusE and activation regulated chemokine (TARC/CCL17). Purpose – to detect the associations and role of different variants of SNP rs_7927894 FLG gene and TARC/CCL17 in children suffering different AD clinical proE files (CP) – isolated or combined with comorbid atopic disorders (AtD). Materials and methods. The main group comprised 39 patients aged 3 to 18 years, suffering the isolated AD or combined with comorbid AtD. The control group comprised 47 patients aged 3 to 18 years, suffering the pathology of gastrointestinal tract without clinical signs of atopy. All the patients of the main and control groups had undergone detection of the genotype variants of SNP rs_7927894 FLG gene by real-time polymerase chain reaction and detection of TARC/CCL17 serum concentrations in venous blood. The cutEoff value of statistical significance was set as p<0.05. Results. The incidence and association of genotype variants C/C, C/T and T/T SNP rs_7927894 FLG gene in patients of cohorts of the studied groups were detected as follows: C/T rs_7927894 FLG was significantly the most common in the general main group (56.4%, p<0.05), within the cohort of CP AD isolated (61.1%, p<0.05) and CP of AD combined with comorbid AtD (52.4%, p<0.05). There were detected the associations of studied SNP with AD: C/T rs_7927894 FLG is significantly directly associated with AD (r=0.291, p<0.05), C/C rs_7927894 FLG has a reverse association with a trend to significance (r=-0.194, p=0.07). Mean serum concentrations of TARC/CCL17 did not differ significantly among patients cohorts of the main and control groups, respectively: general main group — 615.8 pg/ml, main with a CP AD isolated — 651.3 pg/ml, main with a CP of AD combined with comorbid AtD — 585.4 pg/ml, control — 608.4 pg/ml (p>0.05). Associations of serum TARC/CCL17 concentrations were determined as follows: elevation trending to significance within increasing AD severity degree (r=0.290, p=0.07) and significant elevation within the AD exhacerbation period (r=0.426, p<0.05). No significant association of TARC/CCL17 as to AD patients compared to the control group was detected in our study (r=-0.027, p>0.05). Conclusions. The genotype heterozygote variant C/T rs_7927894 FLG is significantly the most common and associated with all AD CP in children — isolated and combined with comorbid AtD. Variant C/C rs_7927894 of FLG gene is significantly reversely associated with AD in children. Serum concentrations of TARC/CCL17 did not reveal any significant differences between the AD patients and nonEatopic ones. However, they significantly elevate within AD exacerbation phase and trending to significance within AD severity degree increase in children. The research was carried out in accordance with the principles of the Helsinki declaration. The study protocol was approved by the Local Ethics Committee of all participating institutions. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: atopic dermatitis, children, associations, polymorphism, filaggrin, thymus- and activation regulated chemokine.

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

2020 ◽  
Vol 5 (4) ◽  
pp. 21-27
Author(s):  
M. S. Panova ◽  
A. S. Panchenko ◽  
B. S. Pushkarev
Keyword(s):  
Gene Polymorphism ◽  
Brain Damage ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Full Term ◽  
Control Group ◽  
Cytokine Gene ◽  
Cytokine Gene Polymorphism ◽  
Blood Leukocytes ◽  
Intrauterine Hypoxia

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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