scholarly journals ANALYSIS OF ASSOCIATION BETWEEN THE POLYMORPHIC VARIANTS OF THE TLR2 (RS5743708) AND TLR4 (RS4986790, RS4986791) GENES WITH THE HEALTH STATUS OF APPARENTLY HEALTHY INDIVIDUALS

2018 ◽  
Vol 22 (1-2) ◽  
pp. 17-22
Author(s):  
O.V. Izmailova
Keyword(s):  
Health Status ◽  
Clinical Manifestations ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Tlr2 Gene ◽  
Pcr Products ◽  
Tlr4 Gene ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants ◽  
Apparently Healthy

Тhe study of single-nucleotide polymorphisms of Toll-like receptors has an important applied and theoretical value for revealing the mechanisms in formation of immunity features and its correction. The aim of the research was to study the available frequency of polymorphic variants of the TLR2 gene (rs5743708) and 896A/G (rs4986790), 1196C/T (rs4986791) of the TLR4 gene, and to assess the association with the health status of apparently healthy individuals. Materials and methods: the study involved 114 Caucasian individuals living in Poltava or Poltava oblast for a minimum of 2 years, who underwent the collection of anamnestic data, as well as the data of objective and clinical examinations. The polymorphic sites of the TLR2 (rs5743708) and TLR4 genes (rs4986790, rs4986791) were determined by polymerase chain reaction (PCR) followed by analysis of the restriction fragments length of the PCR products. The results of distribution of polymorphic variants 2258G/A in the genotypes of the TLR2 gene (rs5743708), 896A/G of the TLR4 gene (rs4986790), and 1196C/T of the TLR4 gene (rs4986791) corresponded to the theoretically expected ones at the Hardy-Weinberg equilibrium (χ2 = 0.02, р = 0.99; χ2 = 0.29, р = 0.86; χ2 = 1.46, р = 0.48, respectively). When comparing the presence of individual clinical manifestations that were detected during the interviewing, with the presence of polymorphic alleles in the genotype, a reliable relationship was established between the presence of the A allele in the polymorphic version of the TLR2 gene (rs5743708) in the genotype with rheumatism (p = 0.05), pyelonephritis (p = 0.05) and a bad habit of smoking (p = 0.04).

scholarly journals Genetic Variants in JAK1 Gene and Susceptibility to Hepatitis C Viral Infection in Iraq

2016 ◽  
Vol 10 (1) ◽  
pp. 37-41
Author(s):  
Fatima Abood Chaloob
Keyword(s):  
Hepatitis C ◽  
Hcv Infection ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Global Challenge ◽  
Pcr Products ◽  
Chronic Hcv Infection ◽  
Chronic Hcv ◽  
Apparently Healthy

Infection with hepatitis C virus (HCV) imposes a global challenge with over 180 million cases worldwide. Only few patients spontaneously had their virus neutralized, while most patients develop chronic HCV infection. This implies a key role of genetic factors in viral clearance or persistence. The current study aimed at clarifying the effect of certain single nucleotide polymorphisms (SNPs) on individual's susceptibility to HCV infection.  A total of 60 patients with confirmed HCV infection and 35 apparently healthy individuals were enrolled in this study. Blood sample was obtained from each participant, from which DNA was extracted. The JAK1gene was amplified with conventional PCR technique using three sets of primers targeting three SNPs in this gene: rs2780895, rs4244165 and rs17127024. Restriction fragment length polymorphism (RFLP) was used for genotyping of PCR products. Each of rs2780895 and rs17127024 had two genotypes in both patients and controls, however, only the heterozygous genotype of the SNP rs2780895 (CT) significantly associated with the susceptibility to HCV. The SNP rs4244165 appeared in only with homozygous wild genotype (GG) in both patients and controls. It can be concluded that allele T of the SNP rs2780895 could be considered as a risk factor for infection with HCV

scholarly journals ARG16GLY POLYMORPHISM IN THE Β2-ADRENOCEPTOR GENE IN PATIENTS WITH BRONCHIAL ASTHMA

2021 ◽  
Vol 74 (5) ◽  
pp. 1200-1203
Author(s):  
Vladyslava V. Kachkovska ◽  
Anna V. Kovchun ◽  
Iryna O. Moyseyenko ◽  
Iryna O. Dudchenko ◽  
Lyudmyla N. Prystupa
Keyword(s):  
Bronchial Asthma ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Polymorphism Analysis ◽  
Healthy Individuals ◽  
Significant Difference ◽  
Polymorphic Variants ◽  
Polymerase Chain ◽  
Arg16gly Polymorphism ◽  
Apparently Healthy

The aim: The objective of the study was to analyze the frequency of Arg16Gly polymorphism in the β2 -adrenoceptor (β2 -АR) gene in patients with bronchial asthma (BA) and to assess the association of the polymorphism with BA risk. Materials and methods: We examined 553 BA patients and 95 apparently healthy individuals. Arg16Gly polymorphism in the β2 -АR gene (rs1042713) was determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS–17 program. Results: It was established that distribution of Arg/Arg, Arg/Gly, and Gly/Gly genotypes for Arg16Gly polymorphism in the β2 -АR gene was 44.2%, 40.0%, 15.8% in the control group vs. 31.3%; 45.7% and 23.0 among BA patients, respectively (χ2 = 6.59; р = 0.037). No significant difference was observed with regards to the distribution of genotypes for Arg16Gly polymorphism in the β2 -АR gene in men and women controls (χ2 = 4.05; р = 0.13) and BA patients (χ2 = 4.34; р = 0.11). BA risk was 1.74 times higher in the minor allele carriers (Arg/Gly + Gly/Gly genotypes) for Arg16Gly polymorphism in the β2 -АR gene. Conclusions: Analysis of Arg16Gly polymorphic variants in the β2-AR gene showed a statistically significant difference in the distribution of Arg/Arg, Arg/Gly, and Gly/Gly genotypes in patients with BA and apparently healthy individuals due to the higher frequency of Arg/Arg genotype in controls and higher frequency of Gly/Gly genotype in patients with asthma. No difference with regard to gender was found in the distribution of genotypes.

scholarly journals Monocyte Chemoattractant Protein-1−2518 A/G Single Nucleotide Polymorphism Might Be Associated with Renal Disease and Thrombocytopenia of SLE

2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Piotr Piotrowski ◽  
Margarita Lianeri ◽  
Robert Gasik ◽  
Andrzej Roszak ◽  
Marzena Olesińska ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Clinical Findings ◽  
Healthy Individuals ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Monocyte Chemoattractant Protein 1 ◽  
Monocyte Chemoattractant ◽  
Conflicting Evidence ◽  
Significant Difference ◽  
Polymorphic Variants

There is conflicting evidence on the contribution of the MCP-1 −2518 A>G (rs 1024611) polymorphism to SLE incidence and clinical manifestations. We examined the prevalence of the MCP-1 −2518 A>G polymorphism in SLE patients (n=199) and controls (n=250) in Poland. We did not observe a significant difference in the distribution of MCP-1 −2518 A>G polymorphic variants in patients with SLE and healthy individuals. However, we found an association between the GG versus AG and AA genotypes as well as the AG and GG versus AA genotypes with renal manifestations of SLEOR=3.614(1.123–11.631,P=0.0345) andOR=2.297(1.301–4.057,P=0.0046), respectively. We also observed that the MCP-1 AG and GG -genotypes contribute to the occurrence of thrombocytopenia in SLE patientsOR=2.618(1.280–5.352,P=0.0089). Our observations indicate that either MCP-1 −2518 G variant can be associated with some clinical findings in patients with SLE.

scholarly journals Molecular genetic study of clinical and cognitive features of schizophrenia: No associations with genes SOD2, GSTO1, NQO1

2022 ◽  
Vol 36 (4) ◽  
pp. 99-106
Author(s):  
E. G. Poltavskaya ◽  
O. Yu. Fedorenko ◽  
E. G. Kornetova ◽  
S. A. Ivanova
Keyword(s):  
Antioxidant Enzymes ◽  
Cognitive Abilities ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Russian Population ◽  
Healthy Individuals ◽  
Siberian Region ◽  
Genes Encoding ◽  
Schizophrenic Patients ◽  
Polymorphic Variants

 The main features of schizophrenia are characterized by three domains of symptoms, including positive symptoms, negative symptoms, and cognitive defi cits, the overlap of which forms a polymorphism of clinical manifestations. Previous molecular genetic studies have found signifi cant genetic overlaps between the cognitive abilities and the risk of schizophrenia developing. Recent evidence suggests that oxidative stress may play an important role in the pathophysiology of schizophrenia.Aim. The aim of the study was to investigate the associations of polymorphisms of genes encoding the antioxidant enzymes SOD2, GSTO1, and NQO1 with clinical polymorphism of schizophrenia and the severity of cognitive deficit.Material and Methods. A comprehensive examination of 457 patients with a diagnosis of schizophrenia was carried out. Out of the total group of examined patients, cognitive functions were assessed using the BACS scale in 150 schizophrenic patients. The control group comprised 135 healthy individuals with age and gender corresponding to patient group. Their cognitive function was assessed. Genotyping of SOD2 (rs4880), GSTO1 (rs4925), and NQO1 (rs1800566) was done by realtime PCR.Results. When analyzing the distribution of genotypes and alleles of polymorphic variants of genes encoding the antioxidant enzymes SOD2, GSTO1, and NQO1, no associations between the studied loci and schizophrenia in the Russian population of the Siberian region were revealed. Also, no associations were found with clinical polymorphism of disease (disease course type, leading symptoms (positive or negative), and age of disease onset). The cognitive abilities of schizophrenic patients and healthy individuals were diff erent as expected, but no associations with genetic characteristics were found.Conclusion. In this work, we obtained negative results in regard to associations of polymorphic variants of genes encoding the antioxidant enzymes SOD2 (rs4880), GSTO1 (rs4925), and NQO1 (rs1800566) with the development of schizophrenia in the Russian population in the Siberian region, as well as with the severity of cognitive defi cit. The genetic profi le for the studied loci did not aff ect the clinical manifestations of disease in the examined sample.

Association of genetic polymorphism of cytokines and antioxidant enzymes with the development of asbestosis

2020 ◽  
Vol 60 (12) ◽  
pp. 898-903
Author(s):  
Lyudmila P. Kuzmina ◽  
Anastasiya G. Khotuleva ◽  
Evgeniy V. Kovalevsky ◽  
Nikolay N. Anokhin ◽  
Iraklij M. Tskhomariya
Keyword(s):  
Antioxidant Enzymes ◽  
Genetic Polymorphism ◽  
Genetic Predisposition ◽  
Risk Groups ◽  
Dust Exposure ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gstp1 Gene ◽  
Polymorphic Variants

Introduction. Various industries widely use chrysotile asbestos, which determines the relevance of research aimed at the prevention of asbestos-related diseases. It is promising to assess the role of specific genes, which products are potentially involved in the development and regulation of certain links in the pathogenesis of asbestosis, forming a genetic predisposition to the disease. The study aims to analyze the presence of associations of genetic polymorphism of cytokines and antioxidant enzymes with asbestosis development. Materials and methods. Groups were formed for examination among employees of OJSC "Uralasbest" with an established diagnosis of asbestosis and without lung diseases. For each person included in the study, dust exposure doses were calculated considering the percentage of time spent at the workplace during the shift for the entire work time. Genotyping of single nucleotide polymorphisms of cytokines IL1b (rs16944), IL4 (rs2243250), IL6 (rs1800795), TNFα (rs1800629) and antioxidant enzymes SOD2 (rs4880), GSTP1 (rs1610011), CAT (rs1001179) was carried out. Results. The authors revealed the associations of polymorphic variants A511G IL1b gene (OR=2.457, 95% CI=1.232-4.899) and C47T SOD2 gene (OR=1.705, 95% CI=1.055-2.756) with the development of asbestosis. There was an increase in the T allele IL4 gene (C589T) frequency in persons with asbestosis at lower values of dust exposure doses (OR=2.185, 95% CI=1.057-4.514). The study showed the associations of polymorphism C589T IL4 gene and C174G IL6 gene with more severe asbestosis, polymorphism A313G GSTP1 gene with pleural lesions in asbestosis. Conclusion. Polymorphic variants of the genes of cytokines and antioxidant enzymes, the protein products directly involved in the pathogenetic mechanisms of the formation of asbestosis, contribute to forming a genetic predisposition to the development and severe course of asbestosis. Using the identified genetic markers to identify risk groups for the development and intense period of asbestos-related pathology will optimize treatment and preventive measures, considering the organism's characteristics.

Influence of the Acetylation Type on the Incidence of Isoniazid-Induced Hepatotoxicity in Patients with Newly Diagnosed Pulmonary Tuberculosis

2020 ◽  
Vol 65 (7-8) ◽  
pp. 31-36
Author(s):  
N. M. Krasnova ◽  
N. E. Evdokimova ◽  
A. A. Egorova ◽  
O. I. Filippova ◽  
E. A. Alekseeva ◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Clinical Laboratory ◽  
Clinical Manifestations ◽  
Normal Activity ◽  
Slow Acetylators ◽  
Nucleotide Polymorphisms ◽  
Newly Diagnosed ◽  
Single Nucleotide ◽  
Tuberculosis Chemotherapy ◽  
Genetically Determined

Introduction. Liver damage can be a dangerous side effect of using isoniazid. Individual susceptibility to isoniazid in humans is dependent on the presence of N-acetyltransferase 2 allelic variants in genome. It was imperative to assess the effect of genetically determined isoniazid acetylation rate in terms of risk of developing isoniazid-induced hepatotoxicity, as well as prevention of potential hepatopathy, and improvement of tuberculosis chemotherapy safety. Aim. To study the effect of acetylation type on the incidence of isoniazid hepatotoxicity in residents of the Sakha Republic (Yakutia) with newly diagnosed pulmonary tuberculosis. Methods. The study included 112 patients with newly diagnosed pulmonary tuberculosis. Genotyping was performed using real-time polymerase chain reaction. The following single nucleotide polymorphisms were studied: rs1801280, rs1799930, rs1799931, rs1799929, rs1208, rs1041983. Hepatotoxicity was determined based on the results of clinical laboratory monitoring and using the criteria developed by the European Association for the Study of the Liver (2019). Results. Hepatotoxic reactions developed more often in slow acetylators (43.2%), compared to fast acetylators (20.7%) and intermediate acetylators (10.9%); p=0.002. Serum alanine aminotransferase activity was 5 or more times above the upper limit of normal activity in 37.8% of slow acetylators, and in 8.7% of intermediate acetylators; p=0.001. Clinical manifestations of isoniazid hepatotoxicity were observed more often in slow acetylators (29.7%), than in fast acetylators (3.4%); p=0.000. Conclusion. Slow acetylation type ought to be considered an important risk factor for developing isoniazid hepatotoxicity in patients with pulmonary tuberculosis.

scholarly journals 173 The role of an intronic single nucleotide polymorphism within the dopamine receptor type-2 gene on pituitary prolactin protein expression in bulls

2020 ◽  
Vol 98 (Supplement_2) ◽  
pp. 37-37
Author(s):  
Andrea N DeCarlo ◽  
Keelee J McCarty ◽  
Sarah K Richey ◽  
Nathan Long ◽  
Scott Pratt
Keyword(s):  
Protein Expression ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Genotypic Effect ◽  
Single Nucleotide ◽  
Detection Range ◽  
Cull Cows ◽  
Densitometry Analysis ◽  
Pcr Products

Abstract Detrimental effects to male reproductive physiology have been observed due to changes in prolactin (PRL) serum concentration. Regulation of PRL by dopamine binding to the dopamine type-2 receptor (DRD2) is well defined and associations between male physiology and single nucleotide polymorphisms (SNPs) within the DRD2 gene have been observed. The objective of the study was to evaluate association of a DRD2 SNP to PRL protein expression in bulls. Testis and epididymis were collected from bulls grazing a forage containing or lacking a dopamine agonist at the end of a 126 d study (n = 14). Bovine pituitaries (n = 587) were collected randomly over 3 mo from a local abattoir which processes cull cows and bulls. Sex of pituitaries was verified (n = 259 males) by duplex PCR for amplification of SRY and b-actin followed by Southern blotting of PCR products for selection of male. Prolactin protein expression was assessed in testis, epididymis, and pituitary by western blotting. Expression of PRL protein was below detection range in reproductive tissues but was present in pituitary, therefore experiments continued in pituitary. Restriction fragment length polymorphism genotyping was performed on pituitaries by amplification of the DRD2 SNP region followed by digestion with a Tfil enzyme. Digested of products produced 3,2, or 1 band (AG, AA, GG, respectively). A subset of male pituitaries was blotted by slot blot manifold and PRL protein expression assessed by immunodetection and densitometry analysis normalized to GAPDH expression. Pituitary genotype distribution was 17.4% AA (n = 16), 63% AG (n = 58), and 19.6% GG (n = 18). Prolactin protein expression in the pituitary was similar across genotype (P = 0.23). These findings indicate that the DRD2 SNP has no genotypic effect on PRL protein expression in bovine pituitary.

scholarly journals POS0169 FETUIN-A AS A MARKER OF OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES IN PATIENTS WITH RHEUMATOID ARTHRITIS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 297.2-297
Author(s):  
Y. Akhverdyan ◽  
E. Papichev ◽  
В. Zavodovsky ◽  
L. Seewordova ◽  
J. Polyakova
Keyword(s):  
Rheumatoid Arthritis ◽  
Blood Serum ◽  
Bone Mineralization ◽  
Expectant Management ◽  
Enzyme Linked Immunosorbent Assay ◽  
Healthy Individuals ◽  
High Concentration ◽  
Mineral Density ◽  
Fetuin A ◽  
Apparently Healthy

Background:The main mechanism of the effect of fetuin-A (FeA) on bone metabolism is its ability to bind calcium and proteins of the TGF-β family. It has been proven that the optimal concentration of TGF-β is necessary for the differentiation of bone tissue, and a high concentration inhibits bone mineralization. Thus, adequate osteogenesis is based on a complex balance between FeA and TGF-β levels. It can be assumed that the determination of the FeA level in the blood of patients with rheumatoid arthritis (RA) will help to optimize the diagnosis and predict the severity of osteoporosis (OP).Objectives:to study the possibility of predicting the development of osteoporosis and osteoporetic fractures in patients with RA, depending on the level of FeA in blood serum.Methods:We examined two groups of patients (52 patients with RA complicated by OP, 58 patients with RA without OP) and 30 apparently healthy individuals. The age of the surveyed ranged from 18 to 72 years, the average duration of the disease was 7.53±0.89 years. In both groups, the FeA level was determined by an indirect enzyme-linked immunosorbent assay using a commercial test. Bone mineral density (BMD) was also measured in both groups (Lunar DPX-NT GE).Results:The average FeA level in the group of RA patients was lower than in the group of conventionally healthy individuals (731.21±109.9 μg/ml and 812.9±76.2 μg/ml, respectively; F=13.34; p=0,0004). The normal FeA level was calculated using the formula M±2σ in the group of apparently healthy individuals and ranged from 653.55 μg/ml to 972.19 μg/ml.A decreased level of FeA was found in 20 patients (86.96%) in the group of patients with OP and only in 3 (13.04%) patients with RA who did not suffer from OP (p<0.001). It can be concluded that patients with RA and a low concentration of FeA in the blood serum have a higher risk of developing OP.In the group of patients with normal FeA level, osteoporetic fractures were observed in 12 (13.79%) patients and were absent in 75 (86.21%) patients (p<0.001). Thus, RA patients with normal serum FeA levels have a lower risk of osteoporetic fractures.We also found a positive significant correlation between the level of FeA and BMD in the femoral neck area. In the group of patients with a reduced FeA level (23 people), the mean BMD values were 0.732±0.022 g/cm2, and in the group of patients with a normal FeA level (87 patients) - 0.890±0.014 g/cm2 (p<0.001, F=27.663). The obtained values are in agreement with the literature data on the effect of the serum FeA concentration on the BMD values.Conclusion:We consider it expedient to determine the serum FeA concentration in patients with RA. At a FeA level of 653.55 μg/ml and below, a higher risk of developing OP and osteoporetic fractures can be predicted. In this case, the patient is shown a standard examination for osteoporosis. At values of 653.55 μg/ml and above, a more expectant management of the patient is allowed. Thus, by determining the serum concentration of FeA, it is possible to implement an integrated approach to the patient and to optimize the schemes for the diagnosis of OP in patients with RA.Disclosure of Interests:None declared

scholarly journals Behavioral and Social Considerations

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 855-855
Author(s):  
Lisa Barry
Keyword(s):  
Health Status ◽  
Low Socioeconomic Status ◽  
Clinical Manifestations ◽  
Individual Variability ◽  
Underrepresented Minority ◽  
Social Dimensions ◽  
Early Life Adversity ◽  
Low Socioeconomic ◽  
Rate Of Decline ◽  
Multidimensional Health

Abstract Cognitive, behavioral and social dimensions also demonstrate increasing heterogeneity with aging. For example, a longitudinal study of over 1,000 clergy revealed increasing heterogeneity in cognitive function and rate of decline with aging. Moreover, studies of individuals with probable Alzheimer’s disease have shown heterogeneity in terms of clinical manifestations and rates of cognitive decline. Older adults also demonstrate greater heterogeneity in mood, anxiety, and the nature and patterns of symptoms over time. Heterogeneity of overall health status increases with aging, as does reported quality of life. Health and Retirement Study (HRS) data have shown that low socioeconomic status or being an underrepresented minority are both associated with greater intra-individual variability in health status in old age, with greatest differences seen in Hispanics. Finally, early life adversity can contribute to heterogeneity of multidimensional health trajectories even in late life.

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