Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-10
{"title":"The impact of rehabilitation measures on the geriatric profile of patients with glaucoma","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-10","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-10","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88031781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-1
I. Golovchenko
Background: Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of the endometrial tissue outside the uterine cavity. Genetic factors occupy a leading position in the etiopathogenesis of this disease. With endometriosis, there is a pronounced hormonal imbalance in the sex hormones both in the lesion and in the body of the sick woman as a whole. The aim of the study:To study the associations of polymorphism of sex hormone genes with the hormonal profile of patients with endometriosis. Materials and methods: The study group included 103 patients with endometriosis, in whom the levels of sex hormones (follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, progesterone, testosterone and dehydroepiandrosterone) were studied. The genotyping of 9 single nucleotide polymorphisms (SNP) of GWAS-significant sex hormone genes was carried out (rs148982377 ZNF789, rs34670419 ZKSCAN5, rs11031002 and rs11031005 FSHB, rs112295236 SLC22A10, rs117585797 ANO2, rs117145500 CHD9, rs727428 SHBG, rs1641549 TP53). The associations of SNPs with the level of sex hormones in patients with endometriosis were investigated by linear regression. Results: In patients with endometriosis, the serum estradiol level is associated with polymorphic loci rs148982377 ZNF789 (β=-0.488 - -0.445, pperm≤0.050) and rs34670419 ZKSCAN5 (β=-0.544 - -0.449, pperm≤0.050), luteinizing hormone – rs117585797 ANO2 (β= 0.618 - 0.709, pperm≤0.050), progesterone – rs117145500 CHD9 (β=0.365 - 0.429, pperm<0.050), prolactin – rs1641549 TP53 (β=-0.306 - -0.218, pperm<0.050), testosterone – rs148982377 ZNF789 and rs34670419 ZKSCAN5 (β=0.492, pperm=0.050). Conclusion: Associations of candidate gene polymorphism with the level of sex hormones in patients with endometriosis have been established.
{"title":"Genetic determinants of sex hormone levels in endometriosis patients [Ссылка на источник: Golovchenko IO. Genetic determinants of sex hormone levels in endometriosis patients. Research Results in Biomedicine","authors":"I. Golovchenko","doi":"10.18413/2658-6533-2023-9-1-0-1","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-1","url":null,"abstract":"Background: Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of the endometrial tissue outside the uterine cavity. Genetic factors occupy a leading position in the etiopathogenesis of this disease. With endometriosis, there is a pronounced hormonal imbalance in the sex hormones both in the lesion and in the body of the sick woman as a whole. The aim of the study:To study the associations of polymorphism of sex hormone genes with the hormonal profile of patients with endometriosis. Materials and methods: The study group included 103 patients with endometriosis, in whom the levels of sex hormones (follicle-stimulating hormone, luteinizing hormone, prolactin, estradiol, progesterone, testosterone and dehydroepiandrosterone) were studied. The genotyping of 9 single nucleotide polymorphisms (SNP) of GWAS-significant sex hormone genes was carried out (rs148982377 ZNF789, rs34670419 ZKSCAN5, rs11031002 and rs11031005 FSHB, rs112295236 SLC22A10, rs117585797 ANO2, rs117145500 CHD9, rs727428 SHBG, rs1641549 TP53). The associations of SNPs with the level of sex hormones in patients with endometriosis were investigated by linear regression. Results: In patients with endometriosis, the serum estradiol level is associated with polymorphic loci rs148982377 ZNF789 (β=-0.488 - -0.445, pperm≤0.050) and rs34670419 ZKSCAN5 (β=-0.544 - -0.449, pperm≤0.050), luteinizing hormone – rs117585797 ANO2 (β= 0.618 - 0.709, pperm≤0.050), progesterone – rs117145500 CHD9 (β=0.365 - 0.429, pperm<0.050), prolactin – rs1641549 TP53 (β=-0.306 - -0.218, pperm<0.050), testosterone – rs148982377 ZNF789 and rs34670419 ZKSCAN5 (β=0.492, pperm=0.050). Conclusion: Associations of candidate gene polymorphism with the level of sex hormones in patients with endometriosis have been established.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89275842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-5
{"title":"State of colon parietal microbiota and antioxidant properties of colonocytes in rats with ecological dysbiosis treated with sea vitamin E and buckthorn oil","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-5","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-5","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76526580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-3
A. Nurgalieva, L. F. Gallyamova, R. Valiev, Sabina G. Petrova, M. Dzhaubermezov, D. Prokofieva, Natalia Ekomasova, Radmir R. Rakhimov, D. Sakaeva, S. Khusnutdinov, E. Khusnutdinova
Gastric cancer (GC) is one of the most serious diseases, occupying a leading position among the causes of death from malignant neoplasms in the world. The Republic of Bashkortostan (RB) also has high rates of morbidity and mortality due to malignant neoplasms of the stomach. One of the main genes that determine a high risk of predisposition to this pathology is the CDH1 gene. The aim of the study: Search for changes in the nucleotide sequence in the CDH1 gene in patients with gastric cancer from the Republic of Bashkortostan. Materials and methods: The material for the study was DNA samples of gastric cancer patients and healthy donors living in the RB. Genomic DNA was isolated from peripheral blood lymphocytes by phenol-chloroform extraction. Amplifica-tion was performed using specific primers flanking the studied exon. The study of exons for the presence of changes in the nucleotide sequence was carried out using the SSCP and HRM methods. To verify molecular genetic changes, the Sanger sequencing method was used. Results: The genetic variant rs35741240 (c.1680G>C, p.Thr560=) was found in the 11th exon of the CDH1 gene. Four patients (1.33%) were found to be heterozygous C allele carriers among patients; the incidence of GC genotype among healthy individuals was 0.67% (2 patients). A rare polymorphic locus rs33969373 (c.1896C>T, p.His571=) was also found in the 12th exon of the CDH1 gene. The vari-ant was also detected in the heterozygous state, the frequency of the CT genotype in the group of patients was 1.00% (3 patients), among the control – 0.33% (1 patients). In exon 14 of the CDH1 gene, a synonymous polymorphic locus rs33964119 (c.2253C>T, p.Asn751=) was found. It was shown that this variant in the heterozygous state occurs in 24 patients (8.00%), and among healthy individuals the frequency of the CT genotype was 5.33% (16 patients). Pairwise comparison of the frequencies of alleles and genotypes of the identified loci between the groups of patients and con-trols revealed no statistically significant differences (p>0.05). Conclusion: As a result of the study, we found previously known changes in the nucleotide sequence in exons 11, 12 and 14 of the CDH1 gene (rs35741240, rs33969373 and rs33964119). None of the identified changes is patho-genic.
{"title":"The role of molecular genetic changes in the structure of the CDH1 gene in the development of gastric cancer in patients from the Republic of Bashkortostan","authors":"A. Nurgalieva, L. F. Gallyamova, R. Valiev, Sabina G. Petrova, M. Dzhaubermezov, D. Prokofieva, Natalia Ekomasova, Radmir R. Rakhimov, D. Sakaeva, S. Khusnutdinov, E. Khusnutdinova","doi":"10.18413/2658-6533-2023-9-1-0-3","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-3","url":null,"abstract":"Gastric cancer (GC) is one of the most serious diseases, occupying a leading position among the causes of death from malignant neoplasms in the world. The Republic of Bashkortostan (RB) also has high rates of morbidity and mortality due to malignant neoplasms of the stomach. One of the main genes that determine a high risk of predisposition to this pathology is the CDH1 gene. The aim of the study: Search for changes in the nucleotide sequence in the CDH1 gene in patients with gastric cancer from the Republic of Bashkortostan. Materials and methods: The material for the study was DNA samples of gastric cancer patients and healthy donors living in the RB. Genomic DNA was isolated from peripheral blood lymphocytes by phenol-chloroform extraction. Amplifica-tion was performed using specific primers flanking the studied exon. The study of exons for the presence of changes in the nucleotide sequence was carried out using the SSCP and HRM methods. To verify molecular genetic changes, the Sanger sequencing method was used. Results: The genetic variant rs35741240 (c.1680G>C, p.Thr560=) was found in the 11th exon of the CDH1 gene. Four patients (1.33%) were found to be heterozygous C allele carriers among patients; the incidence of GC genotype among healthy individuals was 0.67% (2 patients). A rare polymorphic locus rs33969373 (c.1896C>T, p.His571=) was also found in the 12th exon of the CDH1 gene. The vari-ant was also detected in the heterozygous state, the frequency of the CT genotype in the group of patients was 1.00% (3 patients), among the control – 0.33% (1 patients). In exon 14 of the CDH1 gene, a synonymous polymorphic locus rs33964119 (c.2253C>T, p.Asn751=) was found. It was shown that this variant in the heterozygous state occurs in 24 patients (8.00%), and among healthy individuals the frequency of the CT genotype was 5.33% (16 patients). Pairwise comparison of the frequencies of alleles and genotypes of the identified loci between the groups of patients and con-trols revealed no statistically significant differences (p>0.05). Conclusion: As a result of the study, we found previously known changes in the nucleotide sequence in exons 11, 12 and 14 of the CDH1 gene (rs35741240, rs33969373 and rs33964119). None of the identified changes is patho-genic.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81698362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-7
V. Belyayeva
{"title":"Analysis of heart rate variability in medical students with different types of hemodynamics and body mass index values","authors":"V. Belyayeva","doi":"10.18413/2658-6533-2023-9-1-0-7","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-7","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77840584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-8
{"title":"The state of microcirculation in pregnant women with hypertensive disorders in the third trimester of pregnancy","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-8","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-8","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76808200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-6
{"title":"Atrial fibrillation and its geriatric aspects: news of the last 5 years (review)","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-6","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-6","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76022674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-9
{"title":"Geriatric management tactics for patients with diabetic retinopathy","authors":"","doi":"10.18413/2658-6533-2023-9-1-0-9","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-9","url":null,"abstract":"","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86510137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-2
T. Ivanova
Hypertension (HT) is characterized by high blood pressure (BP) and is one of the most common diseases in the world. At the moment, there is information in the literature about 1.5 thousand single-nucleotide polymorphic loci (SNP) associated with HP and BP according to genome – wide studies (GWAS). At the same time, replicative studies of GWAS significant genes in various populations, including Russian ones, are necessary. The aim of the study:To study the relationship of GWAS-significant polymorphic loci for HP with the stages of the disease. Materials and methods: For this study, two samples of patients with HT were formed: patients with stages 1-2 (n=384) and patients with stage 3 HT (n=555), and a control group of 466 people. For the experimental study, ten polymorphic loci of candidate genes associated with the development of HT were selected according to the data of GWAS conducted earlier. Associations were studied by the logistic regression method with a pperm level <0.05. Results: The association of two GWAS significant candidate genes AC026703.1 (rs1173771) and HFE (rs1799945) with the risk of severe HT formation (stage 3 of the disease) was revealed. Allelic variant A rs1173771 (G/A) AC026703.1 has a protective value for the severe course of the disease (ORdom=0.63 and 95%CIdom 0.41-0.98 pperm=0.048). The minor genotype GG rs1799945 (C/G) HFE significantly (more than 3 times) increases the risk of developing stage 3 HT (ORrec=3.25 and 95%CIrec 1.25-8.42 pperm=0.017). Associations of GWAS significant of polymorphic loci for HT with the development of stages 1-2 of the disease have not been established. Conclusion: Polymorphisms rs1799945 of the HFE gene (OR=3.25) and rs1173771 of the AC026703.1 gene (OR=0.63) are associated with the risk of developing stage 3 HT
{"title":"Polymorphic loci of AC026703.1 and HFE genes are associated with severe hypertension","authors":"T. Ivanova","doi":"10.18413/2658-6533-2023-9-1-0-2","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-2","url":null,"abstract":"Hypertension (HT) is characterized by high blood pressure (BP) and is one of the most common diseases in the world. At the moment, there is information in the literature about 1.5 thousand single-nucleotide polymorphic loci (SNP) associated with HP and BP according to genome – wide studies (GWAS). At the same time, replicative studies of GWAS significant genes in various populations, including Russian ones, are necessary. The aim of the study:To study the relationship of GWAS-significant polymorphic loci for HP with the stages of the disease. Materials and methods: For this study, two samples of patients with HT were formed: patients with stages 1-2 (n=384) and patients with stage 3 HT (n=555), and a control group of 466 people. For the experimental study, ten polymorphic loci of candidate genes associated with the development of HT were selected according to the data of GWAS conducted earlier. Associations were studied by the logistic regression method with a pperm level <0.05. Results: The association of two GWAS significant candidate genes AC026703.1 (rs1173771) and HFE (rs1799945) with the risk of severe HT formation (stage 3 of the disease) was revealed. Allelic variant A rs1173771 (G/A) AC026703.1 has a protective value for the severe course of the disease (ORdom=0.63 and 95%CIdom 0.41-0.98 pperm=0.048). The minor genotype GG rs1799945 (C/G) HFE significantly (more than 3 times) increases the risk of developing stage 3 HT (ORrec=3.25 and 95%CIrec 1.25-8.42 pperm=0.017). Associations of GWAS significant of polymorphic loci for HT with the development of stages 1-2 of the disease have not been established. Conclusion: Polymorphisms rs1799945 of the HFE gene (OR=3.25) and rs1173771 of the AC026703.1 gene (OR=0.63) are associated with the risk of developing stage 3 HT","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73868435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-03-27DOI: 10.18413/2658-6533-2023-9-1-0-4
L. Topchieva, I. Kurbatova, I. E. Malysheva, V. Korneva, Anna V. Topchieva
Background: The level of IL-1β in blood plasma is determined not only by pro-inflammatory stimuli, but also by allelic polymorphism of the IL1B and NLRP3 genes. Information on the associa-tion of allelic polymorphism of these genes with the risk of arterial hypertension (AH) is scarce and contradictory. The aim of the study: To assess the risk of developing hypertension in carriers of various allelic variants according to the polymorphic markers rs1143634 (c.3953C>T), rs16944 (c.-511T>C), rs1143627 (c.-31C>T) of the IL1B gene and rs35829419 (c.2113C>A) of the NLRP3 gene, as well as to study possible mechanisms for the inclusion of allelic polymorphism of these genes in the etiology and pathogenesis of AH. Materials and methods: 182 DNA samples from healthy people and 180 DNA samples from patients with hypertension (stages I-II) were used for genotyping rs1143634, rs16944, rs1143627 (PCR-RFLP analysis). 215 DNA samples from healthy individuals and 180 hypertensive patients were used to determine alleles and genotypes for rs35829419 of the NLRP3 gene (allele-specific PCR with TaqMan probes). Total RNA obtained from peripheral blood leukocytes (PBL) of 45 healthy people and 50 patients with AH (27 people taking metoprolol or bisoprolol for more than a year and 23 people without antihypertensive thera-py) for assessment of gene expression by real-time PCR was used. The content of pro-inflammatory proteins in the blood plasma of 40 healthy individuals was measured by ELISA. Results: Carriers of the TT genotype for the c.3953C>T marker of the IL1B gene were found to have a 3-fold increased risk of AH (OR=3,239; 95% CI: 1,858-5,649). In healthy individuals with this genotype, the con-tent of IL-1β in blood plasma and the expression of the ICAM1 gene in PBL are higher than in het-erozygotes or homozygotes for the C allele (p=0,029 and p=0,004, respectively). Individuals with the TT genotype for the c.-31C>T marker of the IL1B gene had a reduced risk of АН (OR=0,645; 95% CI: 0,481-0,866). IL1B gene expression and hsCRP levels were lower in healthy individuals with the T allele for rs1143627 (p=0,022, p=0,040, respectively). There were no differences in the distribution of allele and genotype frequencies for markers c.-511T>C of the IL1B gene and c.2113C>A of the NLRP3 gene in the studied groups. Conclusion: Polymorphic markers rs1143634 (c.3953C>T) and rs1143627 (c.-31C>T) of the IL1B gene are probably involved in the predisposi-tion of the inhabitants of Karelia to the development of arterial hypertension.
{"title":"Allelic polymorphism of genes involved in IL-1β production and predisposition of people to the development of arterial hypertension","authors":"L. Topchieva, I. Kurbatova, I. E. Malysheva, V. Korneva, Anna V. Topchieva","doi":"10.18413/2658-6533-2023-9-1-0-4","DOIUrl":"https://doi.org/10.18413/2658-6533-2023-9-1-0-4","url":null,"abstract":"Background: The level of IL-1β in blood plasma is determined not only by pro-inflammatory stimuli, but also by allelic polymorphism of the IL1B and NLRP3 genes. Information on the associa-tion of allelic polymorphism of these genes with the risk of arterial hypertension (AH) is scarce and contradictory. The aim of the study: To assess the risk of developing hypertension in carriers of various allelic variants according to the polymorphic markers rs1143634 (c.3953C>T), rs16944 (c.-511T>C), rs1143627 (c.-31C>T) of the IL1B gene and rs35829419 (c.2113C>A) of the NLRP3 gene, as well as to study possible mechanisms for the inclusion of allelic polymorphism of these genes in the etiology and pathogenesis of AH. Materials and methods: 182 DNA samples from healthy people and 180 DNA samples from patients with hypertension (stages I-II) were used for genotyping rs1143634, rs16944, rs1143627 (PCR-RFLP analysis). 215 DNA samples from healthy individuals and 180 hypertensive patients were used to determine alleles and genotypes for rs35829419 of the NLRP3 gene (allele-specific PCR with TaqMan probes). Total RNA obtained from peripheral blood leukocytes (PBL) of 45 healthy people and 50 patients with AH (27 people taking metoprolol or bisoprolol for more than a year and 23 people without antihypertensive thera-py) for assessment of gene expression by real-time PCR was used. The content of pro-inflammatory proteins in the blood plasma of 40 healthy individuals was measured by ELISA. Results: Carriers of the TT genotype for the c.3953C>T marker of the IL1B gene were found to have a 3-fold increased risk of AH (OR=3,239; 95% CI: 1,858-5,649). In healthy individuals with this genotype, the con-tent of IL-1β in blood plasma and the expression of the ICAM1 gene in PBL are higher than in het-erozygotes or homozygotes for the C allele (p=0,029 and p=0,004, respectively). Individuals with the TT genotype for the c.-31C>T marker of the IL1B gene had a reduced risk of АН (OR=0,645; 95% CI: 0,481-0,866). IL1B gene expression and hsCRP levels were lower in healthy individuals with the T allele for rs1143627 (p=0,022, p=0,040, respectively). There were no differences in the distribution of allele and genotype frequencies for markers c.-511T>C of the IL1B gene and c.2113C>A of the NLRP3 gene in the studied groups. Conclusion: Polymorphic markers rs1143634 (c.3953C>T) and rs1143627 (c.-31C>T) of the IL1B gene are probably involved in the predisposi-tion of the inhabitants of Karelia to the development of arterial hypertension.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80997446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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