scholarly journals The role of GSTM1 gene polymorphism in pathophysiology, evaluation, and management of constipation of anorectal outlet obstruction

2021 ◽  
Vol 67 (3) ◽  
pp. 163-167
Author(s):  
Shuo Wang ◽  
Zhibin Fan
Keyword(s):  
Gene Polymorphism ◽  
Outlet Obstruction ◽  
Healthy People ◽  
Intestinal Cancer ◽  
Control Group ◽  
Case Group ◽  
Glutathione S Transferase ◽  
Descending Perineum ◽  
Gstm1 Gene ◽  
Anorectal Cancer

Constipation of anorectal outlet obstruction may be caused by mechanical or functional causes. This complication is a debilitating disease that needs proper and timely treatment. Many studies have shown that there is a direct link between constipation and intestinal cancer. One of the most effective ways to prevent or diagnose intestinal cancer is through genetic studies. Evaluation of people's polymorphism shows how much they are at risk for cancer. Therefore, in this study, the GSTM1 gene polymorphism was evaluated in patients with constipation of anorectal outlet obstruction to assess better and manage this disease and investigate the possibility of anorectal cancer in these people. In this regard, 40 people with constipation of anorectal outlet obstruction were compared with 40 healthy people. In the case group (patients), in addition to demographic and clinical evaluations, the anorectal manometric test was used to diagnose the pathology of the disease. Results showed that out of 40 patients with constipation of anorectal outlet obstruction, 5 cases (12.5%) had megarectum, 7 cases (17.5%) had anismus, 10 cases (25%) had Hirschsprung's disease, 5 cases (12.5%) had descending perineum syndrome, 6 cases (15%) had rectal prolapse, 4 cases (10%) had enterocele, and 3 cases (7.5%) were with rectocele. Also, the results of GSTM1 gene deletion polymorphism showed that patients with constipation of anorectal outlet obstruction were almost two times more exposed to the null genotype than the control group (P <0.04). Therefore, in people with both constipation of anorectal outlet obstruction and null genotype (i.e., deletion in the GSTM1 gene), because they do not have glutathione-S transferase, they appear to be at higher risk for anorectal cancer than healthy people with the same genotype.

scholarly journals Fingerprints: A simple method for Screening Hemophilic Patients

2015 ◽  
Vol 40 (2) ◽  
pp. 85-88
Author(s):  
M Jamalian ◽  
M Mesri ◽  
HRK Vishteh ◽  
H Solhi ◽  
R Salehpour
Keyword(s):  
Severe Disease ◽  
Healthy People ◽  
Control Group ◽  
Case Group ◽  
Factor Level ◽  
Simple Method ◽  
Mild Disease ◽  
Normal People ◽  
Significant Difference ◽  
New Occurrences

Background: The present study aims to compare hemophilic patients’ fingerprint types with the normal people to help diagnose the disease, particularly new occurrences of the disease. Method: This casecontrol study was conducted in 2012. Sixty two patients with hemophilia type A and 62 normal healthy people were selected. The type of fingerprint was determined by a forensic specialist who was kept unaware of the participants’ group. Using advanced Henry method, the main types of fingerprints were classified as arch, loop, whorl, as well as other types. Results: In the control group, loop type (65%) and in the case group the whorl type (34%) were the most frequent fingerprint type (p<0.001) and there was a significant difference of fingerprint in each finger between two groups. In addition, the average number of whorl type in the patients with mild disease was significantly higher and the average number of arch and other types of fingerprints was significantly lower than patients with moderate or severe disease. Conclusion: The findings of the present study indicated that not only are the fingerprints of normal and hemophilic people different, but also a difference was observed between hemophilic patients with the mild factor level and patients with moderate or severe one.Bangladesh Med Res Counc Bull 2014; 40 (2): 85-88

scholarly journals Relationship between CYP2E1 Gene Polymorphism and Anti-tuberculosis Drug-induced Liver Injury

2018 ◽  
Vol 1 (4) ◽  
pp. 105
Author(s):  
Donglin Zhu ◽  
Yun Xi ◽  
Jieming Dong ◽  
Fanhua Huang ◽  
Changzhi Xu ◽  
...  
Keyword(s):  
Liver Injury ◽  
Gene Polymorphism ◽  
Liver Damage ◽  
Gene Polymorphisms ◽  
Control Group ◽  
Case Group ◽  
Chinese Han ◽  
Drug Induced ◽  
Drug Induced Liver Injury ◽  
Cyp2e1 Gene

 Objective: To investigate the relationship between cytochrome P450 E1 (CYP2E1) gene polymorphisms and susceptibility to anti-tuberculosis drug-induced liver damage (ATDLI) in tuberculosis patients in the Chinese Han nationality. Methods: A retrospective analysis was performed on 360 patients with tuberculosis who had liver damage after tuberculosis treatment (case group) and 360 patients with tuberculosis who did not develop liver injury after treatment (control group). MassARRAY were used to detect CYP2E1 gene polymorphisms. Results: In a total of 8 tagged SNP loci selected, the rs8192773 locus failed to pass the test, and therefore, it is not included in subsequent analysis. At the remaining seven SNP sites, the difference in alleles was not statistically significant between the case group and the control group, suggesting that these sites may not be related to liver damage caused by anti-tuberculosis drugs. Three monomer domains were found in the seven tags SNP loci mentioned above. However, it was found that these haplotypes are not closely related to anti-tuberculosis drug-induced liver damage. Conclusion: The CYP2E1 gene polymorphism in the Chinese Han nationality is not related to the occurrence of anti-tuberculosis drug-induced liver injury.

scholarly journals ROLE OF GENETIC PREDISPOSITION, GENE POLYMORPHISM OF GLUTATHIONE-S-TRANSFERASE (GSTT1, GSTM1, GSTP1) AND SOME ADVERSE FACTORS IN DEVELOPMENT OF BRONCHIAL ASTHMA IN CHILDREN – RESIDENTS OF RADIOACTIVELY CONTAMINATED AREAS

2021 ◽  
Vol 26 ◽  
pp. 449-463
Author(s):  
Ye. Stepanova ◽  
◽  
I. Kolpakov ◽  
V. Vdovenko ◽  
V. Zigalo ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Bronchial Asthma ◽  
Gene Deletion ◽  
Molecular Genetic ◽  
Glutathione S Transferase ◽  
Genetic Studies ◽  
Hereditary Predisposition ◽  
Gstm1 Gene ◽  
Polymorphic Variants ◽  
Asthma In Children

Objective: to determine the influence of hereditary predisposition, polymorphism of GSTT1, GSTM1, GSTP1 genes and environmental factors on the development of bronchial asthma in children – residents of radioactively contaminated areas. Materials and methods. School-age children-residents of radioactively contaminated areas with bronchial asthma, and those without clinical signs of respiratory pathology were examined. Genetic, medical, biological and social risk factors were determined based on the study of anamnestic data and medical records. Ventilation lung capacity was assessed by the method of computer spirometry. Molecular genetic studies were carried out using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) for further analysis. Results. Molecular genetic studies of the distribution of genotypes and frequencies of polymorphic variants of the genes GSTT1, GSTM1, GSTP1 were performed in children living under long-term intake of 137Cs by food chains. It was found that in children with BA the tendency to frequency of the deletion variant of the GSTT1 and GSTM1 genes in comparison with children without bronchial and pulmonary pathology was increased. The study of distributing the GSTP1 A313G gene polymorphic variants revealed in children with BA a significant increase in the frequency of AG-genotype, compared with the data of reference group. Adverse factors that increase the risk of developing bronchoobstructive disorders and the probability of their implementation in the form of bronchial asthma in children residents of RCA have been identified. It is established that among them the leading role is played by hereditary predisposition to this disease. On the part of the child, such negative factors were unfavorable conditions of fetal development, the presence of signs of exudative-catarrhal diathesis, manifestations of allergies and frequent respiratory diseases from the first months of life. It was found that the risk of developing BA was significantly increased in children with the GSTT1 and GSTM1 gene deletion genotypes; an increased risk of developing BA in children with a combination of the GSTP1 A313G gene polymorphism with deletion polymorphism of the GSTT1 or GSTM1 gene was determined. Сonclusion. Оne of the leading mechanisms, due to which there is a realization of hereditary predisposition to bronchial asthma in children living under constant intake of radionuclides with a long half-life, is the polymorphism of certain glutathione-S-transferase genes, namely, GSTT1, GSTM1 and A313G gene deletion polymorphism and GSTP1 gene polymorphism. Key words: children, radioactively contaminated areas, risk factors, bronchial asthma, glutathione-S-transferase gene polymorphism.

scholarly journals Association of Genetic Polymorphism of GSTM1 and GSTT1 with the Susceptibility to Antituberculosis Drug-induced Hepatotoxicity in Chinese Population

2018 ◽  
Vol 1 (3) ◽  
pp. 80
Author(s):  
Gang Xiao
Keyword(s):  
Liver Toxicity ◽  
Control Group ◽  
Case Group ◽  
Antituberculosis Drug ◽  
Drug Induced ◽  
Antituberculous Treatment ◽  
Gstm1 Gene ◽  
Gstt1 Gene ◽  
The Difference ◽  
And Control

Objective To investigate the relationship between the polymorphism of glutathione S transferase M1, T1(GSTM1, GSTT1) gene and the susceptibility to antituberculosis drug induced hepatotoxicity (ATDH) in patients with tuberculosis. Methods GSTM1 and GSTT1 gene polymorphisms in patients with or without liver toxicity after antituberculous treatment were analyzed using multiple PCR method. Results In ATDH group and control group, the proportion of GSTM1 gene deletion was 58.0% and 50.7%respectively, and the difference was not statistically signifcant (OR=1.322, 95%CI=0.921~1.878), the frequencies of GSTT1 deletion were 46.3% and 49.3%, respectively, and there was no signifcant difference between them. There was no signifcant difference in frequency of GSTM1 and GSTT1 variation between case group and control group (P> 0.05), and no synergistic effect of those two gene polymorphism were detected in the occurrence of antituberculosis drug-induced hepatotoxicity. Conclusion The polymorphisms of GSTM1 and GSTT1 genes may not be associated with the risk of ATDH.

GLUTATHIONE S-TRANSFERASE M1 (GSTM1) GENE POLYMORPHISM IN PATIENTS WITH BLADDER CANCER

1999 ◽  
pp. 123
Author(s):  
Dilek Aktas ◽  
Ali Tekin ◽  
Haluk Ozen ◽  
Necmettin Atsu ◽  
Hawa Simsek ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Gene Polymorphism ◽  
Glutathione S Transferase ◽  
Gstm1 Gene

scholarly journals Research and Discussion on the Relationships between Noise-Induced Hearing Loss and ATP2B2 Gene Polymorphism

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Suhao Zhang ◽  
Enmin Ding ◽  
Haoyang Yin ◽  
Hengdong Zhang ◽  
Baoli Zhu
Keyword(s):  
Hearing Loss ◽  
Gene Polymorphism ◽  
Noise Exposure ◽  
Venous Blood ◽  
Pure Tone Audiometry ◽  
Control Group ◽  
Case Group ◽  
Noise Induced Hearing Loss ◽  
Cochlear Hair Cells ◽  
Potential Biomarker

Long-term and continuous noise exposure can result in noise-induced hearing loss (NIHL), which is a worldwide problem resulting from the interaction of environmental and genetic factors. The ATP2B2 gene polymorphism can destroy cochlear hair cells and increase the risk of NIHL. A case-control study of 760 Chinese textile workers was conducted to investigate the relationship between ATP2B2 polymorphisms and NIHL susceptibility. Venous blood was collected and questionnaires were conducted by professional physicians. A case group and a control group which were typed by individuals’ pure-tone audiometry test results were set. Three polymorphism sites of ATP2B2 were genotyped by using the PCR technique. Analysis results revealed that the C allele of rs3209637 (95%CI=1.08–2.58, odds ratio OR=1.67, P=0.027) was a dangerous factor and could add to risks of NIHL in the Chinese employees. The data of stratified analysis revealed that individuals who are exposed to noise>95 dB with the rs3209637 C genotype have a higher susceptibility to NIHL (OR=1.34, 95%CI=1.07–1.68). Multifactor dimensionality reduction analysis revealed that the interaction between rs14154 and rs3209637 is linked to increased NIHL risk, and for the interaction among rs14154, smoking and drinking had the same function (OR=1.54 and 1.77, 95%CI=1.15–2.07, 1.33–2.37, and P=0.0037 and P<0.0001, respectively). Our results suggest that genetic polymorphism rs3209637 C within ATP2B2 is a risk factor for NIHL among Chinese employees and rs3209637 C could be a potential biomarker for NIHL patients.

Vitamin D Receptor Gene Polymorphism as a Risk Factor for Chronic Periodontitis

2021 ◽  
Author(s):  
Nurlindah Hamrun ◽  
Muhammad Ruslin ◽  
Erni Marlina ◽  
Sri Oktawati ◽  
Takashi Saito ◽  
...  
Keyword(s):  
Vitamin D ◽  
Risk Factor ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Chronic Periodontitis ◽  
Control Group ◽  
Case Group ◽  
Vdr Gene ◽  
Vdr Gene Polymorphism ◽  
Vdr Gene Polymorphisms

Abstract Background: The aim of this study was to investigate vitamin D receptor (VDR) gene polymorphism as a risk factor associated with chronic periodontitis (CP) and to determine the effect of VDR gene polymorphism on phenotypic CP.Methods: This study is a case-control design that included 162 adults divided into two groups: patients with CP (case group) and patients without CP (control group). Venous blood and DNA were obtained from individual samples. The gene polymorphism was determined using Restricted Fragment Length Polymorphism-Polymerase Chain Reaction (RFLP-PCR) and DNA sequencing to identify endonuclease restrictions in exon 9 (TaqI). The data were analyzed using an independent t-test and Fisher’s exact test. The odds ratio (OR) was used to calculate the risk of VDR gene polymorphism in CP. Results: VDR gene polymorphism was detected in patients with CP and a TT genotype (86.4%), Tt genotype (12.4%), and tt genotype (1.2%). The case group with TT and Tt genotypes had an OR of 12.5 (95% CI:1.6–99.8) of having CP compared to the control group (P<0.05).Conclusions: VDR gene polymorphisms (the TT and Tt genotypes) are risk factors associated with individual susceptibility to CP.

scholarly journals SNP G-1082A IL-10 GENE: ALLELE AND GENOTYPE DISTRIBUTION OF PERIODONTITIS PATIENT IN YOGYAKARTA

2016 ◽  
Vol 19 (2) ◽  
pp. 117-120
Author(s):  
Rezmelia Sari ◽  
Prayitno Prayitno ◽  
Alya Nur Fadhilah
Keyword(s):  
Gene Polymorphism ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Inclusion Criteria ◽  
Cotton Swab ◽  
Periodontitis Patient ◽  
Pcr Rflp ◽  
Control Research

Periodontitis is multifactorial inflamation process and related to disproportion of cytokine. IL-10 is a dominant noninflammatory cytokines that related to gene polymorphism. Polymorphism G-1082A IL-10 genes has been reported to increase the risk of periodontitis occurs in Italian populations, apart from different result found in Brazilian. The purpose of this research was to determine the polymorphism G-1082A IL-10 in periodontitis patients in Indonesia, especially among Yogyakarta’s Javanese. This is a case-control research with subjects according to the inclusion criteria. DNA was taken by cotton swab from the epithelial cells of buccal mucosa, and was isolated using a PrestoTM (GeneAid) kit. Genotyping analysis by using the PCR RFLP technique and descriptive results were presented. The result showed that A allele frequency is 100% and no G allele was found. AA genotype in case group has lower frequency than in control group and vice versa. From this research, it was concluded that A allele was dominant in Yogyakarta’s Javanese, and AA genotype frequency is lower in individual with periodontitis.

scholarly journals Evaluation of Vitamin D-Binding Protein Gene Polymorphism and its Plasma Concentration in Kurdish Patients With Breast Cancer in Sanandaj, Iran

2020 ◽  
Vol 8 (2) ◽  
pp. 89-93
Author(s):  
Roya Moloudinia ◽  
Gelavij Mahmoodi ◽  
Mohammad Abdi ◽  
Sabrieh Amini ◽  
Shirin Ferdowsi
Keyword(s):  
Breast Cancer ◽  
Vitamin D ◽  
Gene Polymorphism ◽  
Binding Protein ◽  
Plasma Concentrations ◽  
Significant Risk ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Case Group ◽  
Vitamin D Binding Protein

Background: Several studies have indicated that polymorphism in vitamin D pathway genes is associated with breast cancer (BC) risk. Vitamin D-binding protein (VDBP) is a vital element in the metabolism of the vitamin D. VDBP carries the serum 25(OH) D3 to cells to promote vitamin D biological functions, such as cell proliferation and apoptosis. Missense SNP (rs.7041) is a common polymorphism in VDBP gene, which shows ethnic-specific allele frequencies. Objectives: This study presents the correlation of the rs7041 (Asp432Glu) gene polymorphism and plasma concentrations of VDBP in Kurdish patients with BC in Sanandaj, Iran. Methods: This cross-sectional study included 44 premenopausal BC patients and 44 healthy subjects. Plasma VDBP concentration was measured by enzyme-linked immunosorbent assay (ELISA). The VDBP (rs7041) was genotyped by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). Results: VDBP level was associated with a non-significant risk of BC (P=0.397). Frequencies of individuals with VDBP (rs7041) TT, TG, and GG genotypes were 13.6%, 52.2%, and 34.09% in case group and 11.3%, 79.5%, and 9.9% in control group, respectively. Genotype GG associated with increased susceptibility to developing BC (odds ratio [OR]=5.172, CI: 1.555-17.2, P=0.007). There was a significant reverse correlation between GT genotype and BC (OR=0.282, 95% CI: 0.110-0.722, P=0.008) Conclusion: The changes in the vitamin D pathway may increase susceptibility to develop BC in the Iranian Kurdish population.

The vegf-a gene polymorphism in prognosis of outcomes in patients with stemi

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
I Kutya ◽  
Y Hilova ◽  
J Rodionova ◽  
M Kopytsya ◽  
O Petyunina
Keyword(s):  
Gene Polymorphism ◽  
Cardiovascular Death ◽  
Adverse Outcomes ◽  
Public Institution ◽  
Control Group ◽  
Case Group ◽  
Funding Source ◽  
Polymerase Chain

Abstract   One of the promising parameter for the prognosis in patients with STEMI can be suggested the VEGF-A gene polymorphism. Purpose Estimate the role of the VEGF-A gene polymorphism in the prediction of outcomes in patients with STEMI. Methods The study involved 135 STEMI patients (80.7% male and 19.3% female) with an average age of 59.21±8.92 years. Control group of 30 healthy volunteers included. Patients were divided into two groups: the first one – “case” group, those who reached the end point, and the second group – “control”, those who did not reached. The combined endpoint included cardiovascular death, recurrent myocardial infarction, the occurrence / progression of heart failure that required hospitalization. The study of the VEGF-A gene polymorphism (rs 2010963) was carried out by polymerase chain reaction (PCR). Follow-up period was 6 month. VEGF-A level was measured by ELISA. Results The patients from the “case” group had significantly elevated VEGF-A levels compared to controls (217.40 [102.54–473.78] pg/ml; 311.45 [204.20–680.86] pg/ml; p=0.046). Multivariate linear regression analyses demonstrated that polymorphism G634C (rs2010963) of VEGF-A gene (G634C+C634C) – β=0.8079, CI [1.1907 to 5.6490] p=0.0465; and LVEF &lt;50.60% – β=0.0488 CI [0.9179 to 0.9882], p=0.0096 are significantly associated with negative outcomes (combined endpoints). Conclusions STEMI patients with G634C+C634C polymorphism G634C (rs2010963) of VEGF-A gene, and with LVEF &lt;50.60% have greater chances for adverse outcomes. Further investigations of the VEGF-A gene polymorphism are the perspective direction in the development of prevention and treatment of STEMI. Funding Acknowledgement Type of funding source: Public Institution(s). Main funding source(s): GI “L.T. Malaya Therapy National Institute NAMSU”

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