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Item The Link between ANRIL Gene RS4977574 Polymorphism and Common Atherosclerosis Cardiovascular Complications: A Hospital-Based Case-Control Study in Ukrainian Population(Hindawi, 2022) Князькова, Поліна Володимирівна; Князькова, Полина Владимировна; Kniazkova, Polina Volodymyrivna; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia Yuriivna; Pokhmura, V.V.The Aim. To test the possible association between ANRIL rs4977574 polymorphism and the development of atherosclerosis and cardiovascular complications (acute coronary syndrome (ACS) and large artery stroke (LAS)) in Ukrainian population. Materials and Methods. 195 patients with ACS, 200 patients with LAS, and 234 control subjects were enrolled in this case-control study. Real-time PCR was used for ANRIL rs4977574 genotyping. SPSS software package (version 17.0, IBM, USA) was used for data analysis. Results. A significant association between rs4977574 polymorphism and the risk of atherosclerosis and cardiovascular complications was found under the recessive model regardless of adjustment for nongenetic risk factors (OR = 1:551; p = 0:025). Moreover, the link between rs4977574 locus and serum levels of total cholesterol (p = 0:021) and LDL (p = 0:022) was detected. A separate analysis in subgroups demonstrated the association of rs4977574 polymorphism with increased risk of ACS under the recessive model (OR = 1:501; p = 0:048). No relation between rs4977574 site and LAS development was revealed (p > 0:05). Conclusion. Obtained data suggested that ANRIL rs4977574-GG genotype can be a possible genetic marker for the development of atherosclerosis and cardiovascular complications in Ukrainian population.Item Impact of MMP-9 Genetic Polymorphism and Concentration on the Development of Coronary Artery Disease in Ukrainian Population(Hindawi, 2022) Погорєлова, Оксана Сергіївна; Погорелова, Оксана Сергеевна; Pohorielova, Oksana Serhiivna; Корнiєнко, Вiкторiя Володимирiвна; Корниенко, Виктория Владимировна; Korniienko, Viktoriia Volodymyrivna; Чумаченко, Ярослав Дмитрович; Чумаченко, Ярослав Дмитриевич; Chumachenko, Yaroslav Dmytrovych; Обухова, Ольга Анатоліївна; Обухова, Ольга Анатольевна; Obukhova, Olha Anatoliivna; Martsovenko, I.; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia YuriivnaCoronary artery disease (CAD) is one of the leading causes of death in Europe. It is known that atherosclerosis is the primary risk factor of CAD development. MMP-9 is involved in all stages of atherosclerosis and thus may contribute to CAD emergence. To investigate the influence of MMP-9 on the (CAD) development, 25 patients with intact coronary arteries (CA), 40 patients with acute coronary syndrome (ACS), and 63 patients with chronic coronary syndrome (CCS) were enrolled in the study. Real-time PCR was carried out for genotyping on the rs17567-polymorphic locus, and ELISA study was performed to measure the MMP-9 plasma concentration. It was found the lower risk of MI occurrence for AG-carriers (Pa = 0.023; ORa = 0.299, 95% CI = 0.106–0.848) in Ukrainian population.Item Positive association between SRA1 rs801460 variant and proliferative type of benign breast disease with atypia in Ukrainian females(MORION LLC, 2021) Лукавенко, Іван Михайлович; Лукавенко, Иван Михайлович; Lukavenko, Ivan Mykhailovych; Колногуз, Альона Владиславівна; Колногуз, Алена Владиславовна; Kolnohuz, Alona Vladyslavivna; Левченко, Зоя Михайлівна; Левченко, Зоя Михайловна; Levchenko, Zoia Mykhailivna; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia YuriivnaTo investigate the association between SRA1 rs801460 and rs10463297 variants and proliferative type of benign breast disease with atypia development in Ukrainian females. Materials and Methods: 83 individuals diagnosed with proliferative type of benign breast disease with atypia and 115 without atypia were enrolled in the study. The rs801460 and rs10463297 variants genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. Hematoxylin and eosin, toluidine blue and van Gieson’s picrofuchsin methods were used for sections staining. Results: It was revealed that SRA1 rs801460-variant is associated with proliferative type of benign breast disease with atypia development both before and after adjustment for risk factors (age, body mass index, age of menarche, oral contraceptives intake and burdened history of breast cancer). The risk for mentioned disease in the individuals with rs801460 TT-genotype is 2.2 times higher (confidence interval 1.010–4.800; p = 0.047) than in individuals with the CC and CT genotypes. No link between SRA1 rs10463297 and proliferative type of benign breast disease with atypia occurrence in Ukrainian females was found. Conclusion: The present study specified that SRA1 rs801460, but not rs10463297, can be the strong genetic predictor for benign breast disease with atypia in Ukrainian females.Item Coronary artery disease association with serum concentration and genetic variation of MMP-9 in Ukrainian population(European Society of Cardiology, 2021) Погорєлова, Оксана Сергіївна; Погорелова, Оксана Сергеевна; Pohorielova, Oksana Serhiivna; Chumachenko, Y.A.; Обухова, Ольга Анатоліївна; Обухова, Ольга Анатольевна; Obukhova, Olha Anatoliivna; Martsovenko, I.; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia YuriivnaCoronary artery disease (CAD) is one of the main cause of death in European countries. The mortality associated with CAD has been rising for the past 30 years in Central and Easten Europe (including Ukraine). It is known that atherosclerosis is the primary risk factor of CAD development and Matrix metalloproteinase-9 (MMP-9) is involved in all stages of atherosclerosis and thus may contribute to CAD aggravation. It is very important to find specific mechanisms of atherosclerosis progression, the impact of genetic and external factors which influence on the development of CAD in different populations. Therefore, the aim of this study was to investigate the influence of MMP-9 concentration and functional rs17576 single nucleotide polymorphism (SNP) on risk of CAD development in Ukrainian population.Item The Study of Association Between BGLAP HindIII-Polymorphic Variant And Type 2 Diabetes Mellitus Development Among Ukrainians With Arterial Hypertension(Elsevier, 2021) Чумаченко, Ярослав Дмитрович; Чумаченко, Ярослав Дмитриевич; Chumachenko, Yaroslav Dmytrovych; Колногуз, Альона Владиславівна; Колногуз, Алена Владиславовна; Kolnohuz, Alona Vladyslavivna; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia Yuriivna; Атаман, Олександр Васильович; Атаман, Александр Васильевич; Ataman, Oleksandr VasylovychBackground: Nowadays, the attention of scientists is focused on the systemic energy metabolism regulation by skeleton. Bone tissue affects the glucose turnover through the production of undercarboxylated osteocalcin (ucOCN), which in turn stimulates insulin expression and secretion as well as increases sensitivity of adipocytes, muscle cells and hepatocytes for this hormone. Current evidence showed an inverse association between serum OCN concentration and adverse metabolic outcomes, assuming the crucial role of OCN in type 2 diabetes mellitus (T2DM) pathogenesis. Objective: To analyze the link between OCN gene (BGLAP) HindIII-polymorphism and T2DM occurrence among Ukrainians with arterial hypertension (AH). Methods: The study included 153 patients with T2DM (mean age ± SD 64.67±8.2 years) and 311 relatively healthy individuals (mean age 65.65±12.58 years). Polymerase chain reaction- restriction fragments length polymorphism analysis (PCR-RFLP) was performed for genotyping. Logistic regression with interaction term “genotype × AH” was used for the association analysis under four models of inheritance. Bonferroni correction was applied for accurate results. P ˂ 0.05 was considered as significant. Results: There was no statistically significant association between BGLAP HindIII-polymorphic variant under dominant, recessive, overdominant and additive models of inheritance (Pab N 0.05; Paint b N 0.05). Conclusion: No association was found between BGLAP HindIIIpolymorphic variant and T2DM development among Ukrainians with AH. Further studies are necessary to confirm the results.Item Influence of Lys198Asn polymorphism of endothelin-1 gene on ischemic atherothrombotic stroke characteristics(Aluna Publishing, 2020) Олешко, Тетяна Богданівна; Олешко, Татьяна Богдановна; Oleshko, Tetiana Bohdanivna; Чайка, Ірина Сергіївна; Чайка, Ирина Сергеевна; Chaika, Iryna Serhiivna; Олешко, Тетяна Миколаївна; Олешко, Татьяна Николаевна; Oleshko, Tetiana Mykolaivna; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia YuriivnaIschemic stroke is one of the most common forms of cerebrovascular disorders and occupies a leading position in the morbidity and mortality of the population worldwide, and is therefore an important medical and social problem. It has been proved that endothelial dysfunction plays a key role in the mechanisms of ischemic stroke development, so this issue has recently become of great importance, has been actively researched by scientists all over the world, and its relevance has not subsided over the yearsItem Positive Association between EDN1 rs5370 (Lys198Asn) Polymorphism and Large Artery Stroke in a Ukrainian Population(Hindawi ''Disease Markers'', 2018) Дубовик, Євген Іванович; Дубовик, Евгений Иванович; Dubovyk, Yevhen Ivanovych; Олешко, Тетяна Богданівна; Олешко, Татьяна Богдановна; Oleshko, Tetiana Bohdanivna; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia Yuriivna; Атаман, Олександр Васильович; Атаман, Александр Васильевич; Ataman, Oleksandr VasylovychAs it is well known, endothelial dysfunction plays an important role in the development of common cardiovascular diseases and their complications. One of the main pathogenetic pathways of endothelial dysfunction development is an increased formation and biological activity of the powerful vasoconstrictor and proinflammatory peptide endothelin (ET-1), which mediates own effects via two pharmacologically distinguishable receptor subtypes, endothelin A (ETA) and endothelin B (ETB) receptors, respectively.Item Analysis of Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene K121Q Polymorphism Association with Some Risk Factors of Atherosclerosis in Patients with Acute Coronary Syndrome(Springer, 2018) Атаман, Олександр Васильович; Атаман, Александр Васильевич; Ataman, Oleksandr Vasylovych; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia Yuriivna; Обухова, Ольга Анатоліївна; Обухова, Ольга Анатольевна; Obukhova, Olha Anatoliivna; Дубовик, Євген Іванович; Дубовик, Евгений Иванович; Dubovyk, Yevhen IvanovychThe present study was performed to investigate whether common single-nucleotide polymorphism K121Q (rs1044498) of the ENPP1 gene is associated with the known risk factors of atherosclerosis (overweight, dyslipoproteinemia, hypertension, diabetes, smoking, and hypercoagulability) in persons with acute coronary syndrome. Venous blood of 118 patients was genotyped for the polymorphism by PCR and restriction fragment length polymorphism method. In patients divided into two subgroups according to their genotype (KK and KQ + QQ), the statistically significant differences were revealed only for plasma LDL-cholesterol level and fibrinolytic activity. The carriers of minor allele (KQ + QQ) had lower LDL-cholesterol concentration and the time of fibrinolysis than the major allele homozygotes (KK). The division of patients into subgroups according to presence or absence of some risk factors for atherosclerosis showed no statistically significant differences between K121Q genotype distributions for any of the comparison.Item The association of APAI-Polymorphism of vitamin D receptor gene (VDR) with development of generalized parodontitis in Ukrainian population(ALUNA, 2019) Фоменко, Ілля Геннадійович; Фоменко, Илья Геннадьевич; Fomenko, Illia Hennadiiovych; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia Yuriivna; Обухова, Ольга Анатоліївна; Обухова, Ольга Анатольевна; Obukhova, Olha Anatoliivna; Pokhmura, V.V.; Плахтієнко, Інна Олександрівна; Плахтиенко, Инна Александровна; Plakhtiienko, Inna Oleksandrivna; Півень, Світлана Миколаївна; Пивень, Светлана Николаевна; Piven, Svitlana MykolaivnaIntroduction: At present, it is believed that the genetic component is important in the pathogenesis of periodontitis. One of the candidate genes that are of major importance in the development of the disease is the vitamin D receptor gene (VDR). The association of its genetic polymorphisms, in particular Apal, with periodontitis in different populations of the world is proved. The aim: To study the association of the Apal-polymorphism VDR gene with the development of generalized periodontitis in the Ukrainian population. Materials and methods: Patient genotypes were determined by polymerase chain reaction with subsequent analysis of restriction fragment length (PCR-RFLP) from buccal epithelium 116 patients with generalized periodontitis (GP) and 67 individuals of control group. Statistical analysis was performed by using SPSS-17,0 program Results: As a result of the performed studies, it was shown that in the group of patients with GP, the ratio of homozygous for the main allele (a/a), heterozygote (a/A) and homozygote for the minor allele (A/A) was 26 (22,4%), 62 (53,4%), 28 (24,2%), and in control group – 25 (37,3%), 27 (40,3%), 15 (22,4%),respectively. The distribution of genotypes in the comparison groups was not statistically significant (P = 0,084). By the method of binary logistic regression in the framework of the additive inheritance model (a/A vs a/a), a reliable relationship of the genotype with the Apal-polymorphism of the VDR gene was established with the development of generalized periodontitis (Р=0,029). It was shown that in heterozygotes(a/A)the risk of GP in2,208 (95%CI = 1,084-4,496) times is hig her than in homozygotes of the main allele (a/a). After adjusting for age, sex, smoking habit, BMI, the reliability of these results was maintained (P = 0,030)Item Association analysis between BGLAP rs1800247polymorphic variant and type 2 diabetes mellitus development among non-obese Ukrainians(Sumy State University, 2020) Chumachenko, Y.; Гарбузова, Вікторія Юріївна; Гарбузова, Виктория Юрьевна; Harbuzova, Viktoriia Yuriivna; Золотова, Світлана Григорівна; Золотова, Светлана Григорьевна; Zolotova, Svitlana HryhorivnaType 2 diabetes mellitus (T2DM) belongs to the diseases with hereditary predisposition, so both genetic and environmental factors influence its development. Recent studies showed, that the bone tissue regulates systemic glucose metabolism through the secretion of undercarboxylated osteocalcin (uOCN) into the systemic circulation. It is known, that uOCN binds to the GPRC6A-receptor and, therefore, stimulates insulin expression and secretion in β-cells, as well as increases muscles, liver and adipose tissue sensitivity for insulin. Thus, the thymine to cytosine transition in OCN gene (BGLAP) promoter region (rs1800247) may change the gene expression level and affect T2DM emergence. The aim of the study was to investigate the association between BGLAP rs1800247 single nucleotide polymorphism (SNP) and T2DM development among non-obese Ukrainians.