scholarly journals Experience of using the molecular genetic studies to assess the risk of suicide

2021 ◽  
Vol 18 (4) ◽  
pp. 483-490
Author(s):  
S. V. Davidouski ◽  
Zh. A. Ibragimova ◽  
A. S. Babenka ◽  
M. M. Skuhareuskaya ◽  
S. A. Kastsiuk ◽  
...  
Keyword(s):  
Suicidal Behavior ◽  
Control Method ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Control Group ◽  
Allelic Discrimination ◽  
Significant Difference ◽  
Self Harm ◽  
Bdnf Rs6265 ◽  
Suicide Group

In the recent decades, there has been widespread the opinion that genetic markers of the suicidal behavior (suicide, suicidal attempts, suicidal thoughts) can be used to predict the suicidal behavior.The purpose of the study was to determine the possibility of using the method of molecular genetic research to assess the risk of suicide in men of 18‒27 years.The study used the case-control method. The control group included 100 men of 18‒27 years who never had mental disorders. The suicide group included the persons who committed highly traumatic methods of self-harm and were motivated to commit suicide (30 persons). DNA isolation was performed using a NucleoSpin Blood kit (Macherey‒Nagel, Germany) according to the manufacturer’s protocol. Each DNA sample was analyzed for polymorphism by allelic discrimination using the real-time polymerase chain reaction (PCR).The frequencies of occurrence of genotypes and alleles of the following genes were analyzed: HTR1A, rs6295 (G/C); BDNF, rs6265 (G/A); COMT, rs4680 (G/A); SKA2, rs7208505 (C/T); SLC6A4 (5HTT), rs25531 (T/C); 5HTR2A, rs6313 (G/A); TPH2, rs4570625 (G/T); TPH1, rs1800532 (G/T).A statistically significant difference was found for the frequency of occurrence of genotypes and alleles of the rs25531 polymorphism of the SLC6A4 (5HTT) gene. The chance of being in the suicide group with a heterozygous genotype (T/C) carriage was 2.346 times higher.The significance of the rs25531 polymorphism of the SLC6A4 (5HTT) gene for the formation of the suicidal behavior was confirmed.

Association between genetic variant rs2267716 of CRHR2 gene with colorectal cancer

2021 ◽  
pp. jim-2021-002047
Author(s):  
Angélica Araceli Ramírez-Guerrero ◽  
Christian Octavio González-Villaseñor ◽  
Evelia Leal-Ugarte ◽  
Melva Gutiérrez-Angulo ◽  
Mario Ramírez-Flores ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Angiogenesis Inhibitor ◽  
Cross Sectional Study ◽  
Control Group ◽  
Corticotropin Releasing Hormone ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Cross Sectional ◽  
Releasing Hormone ◽  
Significant Difference

Colorectal cancer (CRC) is the third most common cancer and one of the main causes of death around the world. Multiple lines of evidence have suggested the role of the corticotropin-releasing hormone (CRH) family in CRC induction, including the low expression of corticotropin-releasing hormone receptor 2 (CRHR2), which is an angiogenesis inhibitor and inflammatory modulator. Previous research suggests that CRHR2 expression in colonic intestinal cells can regulate migration, proliferation and apoptosis through the modulation of several pathways. The aim of this study was to analyze the association of the rs10250835, rs2267716 and rs2267717 variants of CRHR2 gene with CRC in the Mexican population in order to consider its predictive value in CRC. This cross-sectional study included a group of 187 unrelated patients with sporadic CRC and a control group of 191 healthy blood donors. DNA extraction from peripheral blood was carried out using the Miller method. Identification of the rs10250835 variant was performed using PCR-restriction fragment length polymorphism (RFLP) and the rs2267716 and rs2267717 variants using TaqMan allelic discrimination assay. The minor allele homozygous CC of the rs2267716 variant of CRHR2 showed significant difference between CRC and control group (p=0.025), as well as the GCA haplotype (p=0.007), corresponding to the rs10250835, rs2267716 and rs2267717 variants, respectively. Our results suggest that the rs2267716 variant and GCA haplotype of CRHR2 represent a risk factor for CRC development in Mexican patients.

scholarly journals Selected E2F2 Polymorphisms in Oral and Oropharyngeal Squamous Cell Carcinoma

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Karolina Gołąbek ◽  
Krzysztof Biernacki ◽  
Jadwiga Gaździcka ◽  
Joanna K. Strzelczyk ◽  
Katarzyna Miśkiewicz-Orczyk ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Primary Tumour ◽  
Critical Role ◽  
Tnm Staging ◽  
Oropharyngeal Squamous Cell Carcinoma ◽  
Control Group ◽  
Allelic Discrimination ◽  
Significant Difference

Oral squamous cell carcinoma (OSCC) and oropharyngeal squamous cell carcinoma (OPSCC) are subgroups of head and neck squamous cell carcinoma. E2F Transcription Factor 2 (E2F2) could contribute to cancer development, because it plays a critical role in many cellular processes, including the cell cycle, proliferation, differentiation, DNA damage response, and cell death. In the current study, we assessed the associations of five E2F2 polymorphisms (rs6667575, rs3218121, rs3218211, rs3218148, and rs3218203) with OSCC and OPSCC and influence on the TNM staging and grading. This is the first such survey to concern the European population. The study included 94 primary tumour samples following surgical resection from patients, whereas the control group consisted of 99 healthy individuals. We tried a matching of cases and controls for age and sample size. DNA samples were genotyped by employing the 5 ′ nuclease assay for allelic discrimination. Our results suggested that the most significant difference between the control group and the cancer group was the A/G heterozygote for rs3218121. Samples containing this genotype were mostly found in the control group. In our samples, rs6667575, rs3218121, rs3218211, and rs3218148 polymorphisms may affect the course of OSCC and OPSCC, while rs3218203 was not associated with OSCC and OPSCC. However, further studies are warranted to confirm our findings.

THE NEW GENETIC ASPECTS OF ATRIAL FIBRILLATION IN PERSONS OF THE RUSSIAN POPULATION

2020 ◽  
pp. 27-33
Author(s):  
Aksyutina N.V. ◽  
Shulman V.A. ◽  
Aldanova E.E. ◽  
Nikulina S.Yu. ◽  
Mordovskii V.S. ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Chronic Heart Failure ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Heart Rhythm ◽  
Control Group ◽  
Atrial Remodeling ◽  
Cardiovascular Pathology ◽  
Heart Rhythm Disorders

Atrial fibrillation (AF) is one of the most common and dangerous heart rhythm disorders. Lone AF is due to a genetic predisposition. Foreign studies have proven the association of rs2200733 polymorphism of chromosome 4q25 with AF. No such studies have been conducted in the Russian Federation. Purpose of the study: to determine the association of the rs2200733 polymorphism of chromosome 4q25 with the development of AF, and to exclude the possible connection of the studied polymorphic marker with concomitant cardiovascular pathology. A total of 247 patients with AF were examined (113 from lone AF, 134 from secondary). Control group - 182 healthy people. Behavior: ECG, EchoCG, Holter ECG monitoring, blood test for thyroid hormones, VEM, CAG, molecular genetic research. In the group of patients with AF, the TT genotype was detected in 12.95%, which is statistically significant more often than in the control group (4.94%), p<0.05. In the presence of a genotype with a rare T allele, the risk of developing AF increases by 1.5 times. The TT genotype was statistically significant more often in the subgroup of patients with isolated AF (17.70%) in comparison with the control group (4.94%), p<0.05. The risk of developing isolated AF in the presence of a genotype with a rare allele T is 1.8 times increased. Chronic heart failure, no statistically significant differences were found (p>0.05). In patients with the TT genotype, the mean LA size was 3.738 ± 0.494 cm, it was statistically significantly smaller than in patients with the CC genotype, which corresponded to 3.925 ± 0.629 cm, p<0.05; and than in individuals with a heterozygous CT genotype, its value in this subgroup is 4.018 ± 0.639 cm, p<0.05. Conclusions: Homozygous genotype for the rare TT allele and the T allele of the rs2200733 polymorphism of chromosome 4q25 are predictors of lone AF. The rs2200733 polymorphism has no association with any cardiovascular pathology, such as hypertension, ischemic heart disease and chronic heart failure. The TT genotype and the T allele of the rs2200733 polymorphism do not affect left atrial remodeling in patients with AF.

scholarly journals Predictors of a suicidal behavior in patients with dementia

2017 ◽  
Vol 41 (S1) ◽  
pp. S399-S399
Author(s):  
N. Maruta ◽  
I. Mudrenko
Keyword(s):  
Suicidal Behavior ◽  
Suicide Risk ◽  
Rating Scale ◽  
Cognitive Disorders ◽  
Severe Depression ◽  
Control Group ◽  
Self Awareness ◽  
Wide Range ◽  
Significant Difference ◽  
High Level

IntroductionCognitive disorders are associated with a wide range of psychopathological syndromes and behavioral disorders, and suicidal manifestations in dementia are understudied nowadays.ObjectivesTo investigate clinical-psychopathological predictors of a suicidal behavior in patients with dementia.MethodologyForty-four patients with dementia were examined: 23 patients with suicidal manifestations and 21 patients without them (control group). Clinical and psychometrical methods were used: Mini Mental State Examination (MMSE) scale; Assessment of Suicide Risk scale; Hamilton Rating Scale for Depression (HDRS), and statistical ones.ResultsIt was determined that male patients with dementia had suicidal behavioral manifestations more often than female patients (69.6%; P < 0.05). An average age of the patients was 69.88 ± 1.85 years with no significant difference between the main and control groups.The majority of the patients with dementia (52.3%) had suicidal manifestations. Real suicidal intentions were the most frequent (25%; P < 0.05); 20.5% of patients expressed passive thoughts (anti-vital sentences, fantasies, ideas concerning death); 2 patients (6.82%; P < 0.05) had suicidal attempts. Patients with suicidal tendencies in their clinical picture more often had hallucinatory syndrome (39.1%; P < 0.05); features of severe depression (35.04 ± 1.54 points; P < 0.01); a high level of suicidal risk (26.34 ± 1.68 points; P < 0.01); a severe cognitive deficit (ММSE score 0–10); and a significantly lower level of self-awareness of death (18.53 ± 0.72 points; P < 0.05) in comparison with the control group.ConclusionsA high suicide risk in dementia correlated with a level of depressive symptoms (r = 0.6), moderate and/or severe grades of dementia (r = 0.45), and a low level of self-awareness of death (r = 0.35).Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals The effectiveness of complex therapy of suicidal behavior in schizophrenia

2019 ◽  
Vol 25 (3) ◽  
pp. 130-135
Author(s):  
M. O. Ovcharenko ◽  
P. V. Budonnyi
Keyword(s):  
Suicidal Behavior ◽  
Control Group ◽  
The Past ◽  
Comprehensive Therapy ◽  
Significant Difference ◽  
Complex Therapy ◽  
Before And After ◽  
Treatment Measures ◽  
Gender Characteristics

Background. The relevance and clinical and social need for this study is determined by the fact that to date, no comprehensive therapy and prevention of suicidal behavior (SB) has been developed in patients with schizophrenia from the area of the anti-terrorist operation (ATO). Objective – to analyze the features of positive and negative syndromes by using the PANSS scale before and after complex therapy in people with schizophrenia who in the past had suicidal behavior. Materials and methods. 266 people aged 22 to 50 years were selected with a diagnosis of schizophrenia, who in the past had suicidal behavior. 136 people with suicidal behavior in schizophrenia who were treated in 2014-2016 constituted the main group (МG). The control group (CG) constituted 130 people with suicidal behavior in schizophrenia who were examined in 2006-2013. Results. In order to improve care for patients with suicidal behavior in schizophrenia who have been living in the ATO zone, we proposed an algorithm for the treatment process, which included a comprehensive and phased provision of medical and social assistance. In addition to standard care using clinical protocols, we have introduced a comprehensive approach taking into account the gender characteristics of patients with schizophrenia with suicidal behavior. Integrated author’s therapy was carried out at the inpatient and outpatient stages. Treatment measures were aimed both at the patients with schizophrenia with suicidal behavior, and at their relatives. After the treatment, we analyzed dynamics of positive, negative and psychopathological syndromes according to the PANSS, compared the results obtained before and after therapy. It was found that the main number of results that have a significant difference in МG and CG, relates to general psychopathological symptoms, which were identified as markers. Conclusions. The highlighted markers of positive, negative and psychopathological syndromes, that reduce the quality of life and lead to impaired social functioning, underwent positive changes when introducing a model of comprehensive measures to help patients with suicidal behavior in schizophrenia.

scholarly journals Role of potash extract (Jar Kanwa) in suppression of male sexual desire: A study among Wister rats

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
Idris Sulaiman Abubakar ◽  
Ayyuba Rabiu
Keyword(s):  
Sexual Desire ◽  
Control Method ◽  
Serum Testosterone ◽  
Fertility Control ◽  
Control Group ◽  
Dependent Manner ◽  
Sperm Analysis ◽  
Treatment Groups ◽  
Significant Difference

Consumption of potash extract is traditionally used for suppression of male sexual desire and as a fertility control method even before the emergence of modern contraceptives. This research was aimed at determining potash extract’s role in suppression of male sexual desire. Four groups of virgin Wister rats were formed of which three groups were given different doses of potash extract and the fourth group as control. They were monitored for sexual desire with CCTV cameras and were sacrificed after 28 days. Serum testosterone and estrogen levels were assayed and sperm analysis was carried out. Data were analyzed using SPSS version 19 Statistical Software. A p<0.05 was considered as significant. Findings showed that higher doses of this potash extract (500 mg/kg and 1,000 mg/kg) stimulated more sexual desire, evidenced by increased duration of mounting. However, Serum testosterone and estrogen levels as proxy markers of sexual desire were found low in a dose dependent manner and with narrow margin of effects. The study showed no statistically significant difference between the control group and different treatment groups of potash extract on parameters of sperm analysis.

scholarly journals Effectiveness of a Malaysian Media Intervention Workshop: Safe Reporting on Suicide

2021 ◽  
Vol 12 ◽  
Author(s):  
Jane Tze Yn Lim ◽  
Qijin Cheng ◽  
Yin Ping Ng ◽  
Kai Shuen Pheh ◽  
Ravivarma Rao Panirselvam ◽  
...  
Keyword(s):  
Lived Experience ◽  
Suicidal Behavior ◽  
Negative Impact ◽  
Current Evidence ◽  
Control Group ◽  
Media Content ◽  
Increased Risk ◽  
Significant Difference ◽  
Before And After ◽  
The Media

Background: Suicide remains an important cause of premature deaths and draws much media attention. However, unsafe reporting and portrayal of suicides by the media have been associated with increased risk of suicidal behavior. Current evidence suggests that media capacity-building could potentially prevent suicide. However, there are still knowledge gaps in terms of a lack of data on effective strategies for improving awareness and safe reporting of suicide-related media content. This study aims to investigate the effectiveness of a workshop conducted with members of the media community on the safe reporting of suicide-related content.Methods: An interventional single-arm pre and post pilot study was conducted on a sample of the Malaysian media community recruited through purposive and snowball sampling. The media safe reporting workshop was conducted by a suicide prevention expert with a media industry background. Thirty participants completed a self-reported evaluation questionnaire on their awareness and knowledge of reporting on suicide-related media content; before and after the interventional workshop.Results: There was a significant difference between the total scores before and after the intervention, with a large effect size. Post-intervention scores were significantly improved in 8 items, namely those related to the reporting of: (i) the content of any suicide note; (ii) headlines with methods of suicide; (iii) headlines with the location of suicide; (iv) cases of suspected suicide despite the unconfirmed cause of death; (v) suicide news to cater to readers’ interests; (vi) cause of suicide; (vii) details of the location of suicide; and (viii) the negative impact to media community when reporting suicide stories. In particular, there was an improvement in the majority of items for people from the media community with no lived experience of suicidal behavior.Conclusion: The media safe reporting workshop is a potentially effective intervention for improving awareness and knowledge measures relating to safe reporting on suicide among the media community, with a more pronounced effect in those without lived experience of suicidal behavior. Limitations in the sample size, generalizability, short-term evaluation, and lack of a control group warrant future larger, longer-term controlled, and more representative studies.

scholarly journals Association of adiponectin gene rs2241766 polymorphism with serum adiponectin level, Insulin resistance and type 2 diabetes mellitus in an Iranian population

2019 ◽  
Author(s):  
Nasrin Hajilo ◽  
Masoumeh Nezhadali ◽  
Laleh Ghanei
Keyword(s):  
Insulin Resistance ◽  
Type 2 Diabetes ◽  
Control Method ◽  
Adiponectin Level ◽  
Control Group ◽  
Case Group ◽  
Diabetic Patients ◽  
Adiponectin Gene ◽  
Significant Difference

Introdution: Adiponectin is a peptide secreted from fat cells that plays an important role in the development of insulin resistance and type 2 diabetes. A number of single nucleotide polymorphisms in the adiponectin gene are associated with lower adiponectin expression and T2DM. The aim of this study was to determination the frequency of rs 2241766 polymorphism in adiponectin gene and its relation with adiponectin level, insulin resistance, type 2 diabetes and in pre diabetes/diabetes and healthy individuals. Methods: This study was performed in a case -control method. 73 prediabetic/diabetic patients with fasting blood sugar >100 mg/dl was selected as the case group without drug history, and 76 individuals with FBS 70-100 mg/dl as the control group. Biochemical and anthropometric variables were measured by standard methods and the levels of adiponectin and insulin hormone were measured using commercially available human ELISA kit. The determination of genotyping was done using PCR-RFLP method. Data were analyzed by SPSS software version 19. Results: Regression analysis showed that polymorphism rs2241766 in the adiponectin gene has no significant relation with diabetes and insulin resistance. No significant difference was found between TT and TG carriers for any of the variables in the two groups (pre diabetes/diabetes and Non-diabetic). A negative correlation was seen between adiponectin and insulin resistance ( r=-0.225, p< 0/01). Conclusion: According to this study, adiponectin gene polymorphism rs2241766 is not associated with adiponectin levels, insulin resistance and type 2diabetes, but there was a correlation between adiponectin and insulin resistance.

scholarly journals Investigation of the relationship of TNFRSF11A gene polymorphisms with breast cancer development and metastasis risk in patients with BRCA1 or BRCA2 pathogenic variants living in the Trakya region of Turkey

2020 ◽  
Vol 23 (2) ◽  
pp. 49-58
Author(s):  
K Özdemir ◽  
H Gürkan ◽  
S Demir ◽  
E Atli ◽  
Y Özen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Regulation ◽  
Cancer Development ◽  
Control Group ◽  
Breast Cancer Patients ◽  
Allelic Discrimination ◽  
Breast Cancer Development ◽  
Modifying Genes ◽  
Significant Difference ◽  
The Relationship

Abstract Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with BRCA1 or BRCA2 variations. A total of 23 breast cancer patients with pathogenic variations in the BRCA1 or BRCA2 genes, 28 patients with no pathogenic variations in the BRCA1 or BRCA2 genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (p >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059). In patients with BRCA1 or BRCA2 pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between TNFRSF11 SNPs with breast cancer risk.

Predicting the Development of Great Obstetric Syndromes Based on Multilocus Genetic Analysis: Results of a Retrospective Comparative Cohort Study

2021 ◽  
Vol 76 (3) ◽  
pp. 244-253
Author(s):  
Elena V. Kudryavtseva ◽  
Vladislav V. Kovalev ◽  
Igor I. Baranov ◽  
Igor V. Ugarov
Keyword(s):  
Cohort Study ◽  
Pregnancy Complications ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Mthfr C677t ◽  
Main Group ◽  
Control Group ◽  
Mtrr A66g ◽  
Comparative Cohort Study ◽  
Polymorphic Variants

Background. Great obstetric syndromes are pathological conditions, related to the level of maternal, perinatal and infant morbidity and mortality. There is a genetic component in the development of pregnancy complications, as evidenced by numerous clinical observations and research results. Purpose to study the frequency characteristics of the occurrence of polymorphic variants of various genes and their combinations in patients who underwent pregnancy complicated by great obstetric syndromes in comparison with women whose pregnancy proceeded without complications and successfully ended with the birth of a live full-term baby. Methods. A retrospective comparative cohort study was conducted. Molecular genetic research was carried out in 391 women: 279 women who underwent one of the verified clinical forms related to great obstetric syndromes (main group), 112 women were included in the control group. 37 polymorphisms in 33 genes were studied (FGB, F2, F5, F7, F13, GPIa, GPIIIa, GPVI, PROC, PAI1, PLAT, MTHFR, MTHFD, MTRR, MTR, SLC19A1, CBS, NOS3, END1, ACE, ADD1, AGT , CYP11B2, GSTM, GSTT, GSTP1, MnSOD, GPX1, IL1, TNF-a, ESR1, ESR2, PGR). Results. The most significant polymorphisms and their combinations were identified. In the main group, the following combinations were more common: ACE Alu I/D ID + AGT А704G GG, AGT А704G GG + MTRR A66G AG, F7 G10976A GG + AGT А704G GG, F7 G10976A GG + F13 G103A GG, F7 G10976A GG + GPIa С807T CC, F7 G10976A GG + MTHFR C677T CC, CYP11B2 G-344A GA + IL1 G+3953A GA, PAI1-657 5G/4G 5G4G + IL1 G+3953A AA, PAI1-657 5G/4G 4G4G + IL1 G+3953A AA, in control group AGT A704G AA + MTRR A66G AG, AGT A704G AG + MTRR A66G AG (the differences are statistically significant). To simplify the practical application of the analysis for genetic polymorphisms, a computer program named GOS RISK was created to assess the risk of pregnancy complications. The sensitivity and specificity were 70.8% and 78.8%, the efficiency of the method 74.8%. Conclusion. Analysis of individual polymorphic variants of genes indicates their role in the discussed pathology. Creation of computer programs based on multilocus genome analysis increases the predictive value of molecular genetic studies.

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