scholarly journals Association of Toll –like Receptors 1, 2, 4, 6 ,8, 9 and 10 Genes Polymorphisms and Susceptibility to Tuberculosis in Sudanese Patients

2021 ◽  
Author(s):  
Najwa A Mhmoud
Keyword(s):  
Complex Disease ◽  
Toll Like Receptors ◽  
Tuberculosis Patients ◽  
Wide Range ◽  
Pcr Rflp ◽  
Genes Encoding ◽  
Study Population ◽  
Polymerase Chain ◽  
Tuberculosis Disease

Abstract Background: Genetic factors are important contributors to the development of a wide range of complex disease. Polymorphisms in genes encoding for toll like receptors (TLRs) usually influence the efficiency of the immune response to infection and are associated with disease susceptibility and progression. Therefore, we aims to describe the first association between TLR1, TLR2, TLR4 TLR6 , TLR8 , TLR9 ,and TLR10 genes polymorphisms and susceptibility to tuberculosis in Sudanese patients.Methodology: Here we performed a case study which included 160 tuberculosis patients and 220 healthy matched controls from Sudan. In the study population, we evaluated the possible association between 86 markers in TLR1, TLR2, TLR4 TLR6 , TLR8 , TLR9 ,and TLR10 genes polymorphisms and susceptibility to tuberculosis disease in Sudanese population using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) . Result: From our results It appeared that in the tuberculosis population the TLR1 rs5743557, TLR1 rs4833095, TLR1 rs5743596, TLR2 rs5743704, TLR2 rs5743708, TLR2 rs3804099 , TLR4 rs4986790 ,TLR4 rs4986791, TLR6 rs5743810 , TLR8 rs3764879 , TLR8 rs3764880, TLR9 rs352165, TLR9 rs352167, TLR9 rs187084 and TLR10 rs4129009 were significantly more often encountered (p<0.0001) than in the control population and were associated with tuberculosis in the Sudanese population. For the other polymorphisms tested, no association with tuberculosis was found in the population tested. Conclusion: This indicates that the genotypes obtained for TLR1 rs5743557, TLR1 rs4833095, TLR1 rs5743596, TLR2 rs5743704, TLR2 rs5743708, TLR2 rs3804099 , TLR4 rs4986790 ,TLR4 rs4986791, TLR6 rs5743810 , TLR8 rs3764879 , TLR8 rs3764880, TLR9 rs352165, TLR9 rs352167, TLR9 rs187084 and TLR10 rs4129009 allele have a significant role in the genetic susceptibility to development tuberculosis in Sudanese population.

The Association of CYP2D6*4 and POR*28 Polymorphisms on Mirtazapine Plasma Level in Subjects with Major Depressive Disorder and Anxiety Disorders

2020 ◽  
Vol 23 (10) ◽  
pp. 1032-1040
Author(s):  
Fezile Ozdemir ◽  
Emrah Dural ◽  
Nilay Sedes Baskak ◽  
Yağmur Kır ◽  
Bora Baskak ◽  
...  
Keyword(s):  
Plasma Level ◽  
Plasma Levels ◽  
Psychiatric Patients ◽  
Nucleotide Polymorphisms ◽  
Major Depressive ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Genes Encoding ◽  
Study Population ◽  
Polymerase Chain

Aims and Objective: The plasma level of mirtazapine (MIR) varies between individuals primarily depending on the differences in metabolism during pharmacotherapy. CYP2D6 takes the role as a major enzyme in MIR metabolism and POR enzyme donates an electron to CYP2D6 for its activity. Single nucleotide polymorphisms in the genes encoding pharmacokinetic enzymes may cause changes in enzyme activity, leading to differences in metabolism of the drug. Our aim was to assess the influence of CYP2D6*4 and POR*28 polymorphisms on MIR plasma levels in Turkish psychiatric patients. Materials and Methods: The association between genetic variations and plasma level of MIR was investigated on 54 patients. CYP2D6*4 and POR*28 polymorphisms were analysed using Polymerase Chain Reaction- Restriction Fragment Length Polymorphism (PCR-RFLP) and plasma MIR levels were measured using HPLC. Results: Allele frequencies of CYP2D6*4 and POR*28 were 0.11 and 0.39, respectively in the study population. The results showed that CYP2D6*4 allele carriers have higher C/D MIR levels while POR*28 allele carriers have lower C/D MIR levels. Combined genotype analyses also revealed that individuals with CYP2D6*1/*1 - POR*28/*28 genotype have a statistically lower C/D MIR level (0.95 ng/ml/dose) when compared with individuals with CYP2D6*1/*1 - POR*1/*1 genotype (1.52 ng/ml/dose). Conclusion: Our results indicate that CYP2D6*4 and POR*28 polymorphisms may have a potential in the explanation of differences in plasma levels in MIR treated psychiatric patients. A combination of these variations may be beneficial in increasing drug response and decreasing adverse drug reactions in MIR psychopharmacotherapy.

scholarly journals CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

Nutrients ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 998
Author(s):  
Maria Latacz ◽  
Jadwiga Snarska ◽  
Elżbieta Kostyra ◽  
Konrad Wroński ◽  
Ewa Fiedorowicz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Fragment Length Polymorphism ◽  
Intestinal Cells ◽  
Chain Reaction ◽  
The Third ◽  
Pcr Rflp ◽  
Study Population ◽  
Polymerase Chain ◽  
Peripheral Leukocytes

Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. It was demonstrated that rs10877012 polymorphism in the CYP27B1 gene influenced the circulating vitamin D level. This provided a rationale for determining the role that this polymorphism plays in the risk of developing colon cancer. In this study, we investigated the association of rs10877012 (T/G) polymorphism in the CYP27B1 gene with CRC susceptibility. The study population (n = 325) included CRC patients (n = 106) and healthy controls (n = 219). DNA was extracted from peripheral leukocytes and analyzed for the CYP27B1 polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found an association between the presence of the T allele at the polymorphic site (odds ratio (OR) = 2.94; 95% CI 1.77–4.86; p < 0.0001) and a decreased CRC incidence.

scholarly journals Allele Frequency Analysis Suggests Potentially Protective Effect in the Lithuanian Population

2020 ◽  
Author(s):  
Gabriele Zukauskaite ◽  
Ingrida Domarkiene ◽  
Tautvydas Rancelis ◽  
Ingrida Kavaliauskiene ◽  
Karolis Baronas ◽  
...  
Keyword(s):  
Genetic Structure ◽  
Complex Disease ◽  
Scientific Literature ◽  
Small Populations ◽  
Disease Phenotypes ◽  
Wide Range ◽  
Study Population ◽  
Similarities And Differences ◽  
European Populations

Abstract Background. In the scientific literature, a wide range of effect variants that protect against complex disease phenotypes has been identified. Analysis of these variants and overall genetic structure of isolated or, in our case, small populations is important in association analysis. When analysing admixture populations during GWAS, one could expect inaccuracies, which could be eliminated by choosing distinct populations as one of the interests of study. Population genetic structure determines similarities and differences between individuals or different groups of individuals and the factors that may lead to those differences. Results. In our study, we identified six missense effect variants in the Lithuanian population having frequencies that were significantly different compared to other European populations. Three of these effect variants may potentially protect against type 2 diabetes and coronary heart disease.Conclusions. Even though high rates of these diseases in the Lithuanian population and other populations indicates the presence of environmental factors and the lack of knowledge about the interactions between regulatory regions and other effect variants. Identification of these effect variants is important not only to provide a better understanding of the microevolutionary processes and etiopathogenetic mechanisms, but also to develop disease prevention programs and novel, personalised therapies using genome editing or other genetic tools.

Contribution of the ACE (rs1799752) and CYP11B2 (rs1799998) Gene Polymorphisms to Atrial Fibrillation in the Tunisian Population

2021 ◽  
pp. 109980042110293
Author(s):  
Ilhem Gouissem ◽  
Fatma Midani ◽  
Hayet Soualmia ◽  
Meryem Bouchemi ◽  
Sana Ouali ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Gene Polymorphisms ◽  
Tunisian Population ◽  
Genotype Distribution ◽  
Confounding Factors ◽  
Pcr Rflp ◽  
Study Population ◽  
Polymerase Chain ◽  
And Control ◽  
T Haplotype

Background: This study investigated the association of angiotensin–converting enzyme (ACE I/D) and aldosterone synthase (CYP11B2-344C/T) gene polymorphisms in the renin–angiotensin–aldosterone system (RAAS) with atrial fibrillation (AF) in the Tunisian population. Materials and Methods: The study population included 120 patients with AF and 123 age-matched controls. Genotyping of the I/D polymorphism in the ACE gene and the -344C/T polymorphism in the CYP11B2 gene was performed by polymerase chain reaction (PCR) and PCR-RFLP methods, respectively. Results: The genotype distribution of the ACE I/D and CYP11B2-344C/T polymorphisms was significantly different between AF patients and control participants ( p < 0.01 and p < 0.006 respectively). In addition, ACE I/D increased the risk of AF significantly by 3.41-fold for the DD genotype (OR = 3.41; 95% CI [1.39–8.34]; p < 0.007), and after adjusting for confounding factors (age, diabetes, hypertension, and dyslipidemia), the risk was higher (OR = 5.71; 95% CI [1.48–21.98]; p < 0.01). Likewise, the CYP11B2-344C/T polymorphism increased the incidence of AF for the TT genotype (OR = 3.66; 95% CI [1.62–8.27]; p < 0.002) and the CT genotype (OR = 2.68; 95% CI [1.22–5.86]; p < 0.01). After adjusting for confounding factors (age, diabetes, hypertension and dyslipidemia), the risk remained higher for the TT genotype (OR = 3.58; 95% CI [1.08–11.77]; p < 0.03). Furthermore, the haplotype–based association of the ACE I/D and CYP11B2-344C/T polymorphisms showed that the D-T haplotype increased the risk for AF. Conclusion: Our study suggests a significant association of the ACE (I/D) and CYP11B2-344C/T polymorphisms with AF in the Tunisian population.

scholarly journals 3’UTR Polymorphism of NRAMP1 Gene and Susceptibility to Lung Tuberculosis among Patients and Nurses in Surabaya, Indonesia

2010 ◽  
Vol 1 (1) ◽  
pp. 17
Author(s):  
Rahayu Anggraini
Keyword(s):  
Potential Role ◽  
Natural Resistance ◽  
Restriction Enzyme Digestion ◽  
Tuberculosis Patients ◽  
Lung Tuberculosis ◽  
Study Population ◽  
Nramp1 Gene ◽  
Single Base Pair ◽  
Polymerase Chain ◽  
Macrophage Protein

The objectives of this study was to evaluate a potential role for natural-resistance-associated macrophage protein 1 (NRAMP1) gene in the human homologue using four single base pair polymorphisms (D543N, 3’UTR, INT4, 274C/T) for susceptibility to tuberculosis infection in Surabaya, Indonesia. The study population were 69 lung tuberculosis patients and 43 healthy nurses were genotyped with the polymerase chain reaction (PCR) and the product amplified from their genomic DNA were subjected to restriction enzyme digestion (RFLP) and were analysed using agarose gel electrophoresis. Results of this study showed only the homozygous TGTG deletion allele at the 3’untranslated region (3’UTR) of the NRAMP1 gene i.e. the TGTGdel/del genotype was more frequently found in lung tuberculosis patients (20/69=29%) compared to that found in nurses (2/43=4.7%). The Odds ratios (ORs) were 8.37 (95% confidence interval [CI], 1.85 to 37.94; p=0.002). This finding shows that polymorphism 3’UTR of NRAMP1 gene increased the risk of lung tuberculosis in Surabaya, Indonesia.

scholarly journals An Optimised Protocol for Fluorescent-dUTP Based SSR Genotyping and its Application to Genetic Mapping in Eucalyptus

2011 ◽  
Vol 60 (1-6) ◽  
pp. 18-25 ◽  
Author(s):  
F. Li ◽  
S. Gan
Keyword(s):  
Genetic Mapping ◽  
Biological Applications ◽  
Fluorescent Intensity ◽  
Wide Range ◽  
Ssr Loci ◽  
Touchdown Pcr ◽  
Polymerase Chain ◽  
Ssr Genotyping ◽  
Simple Sequence

AbstractIntegration of fluorescent-dUTP in polymerase chain reaction (PCR) appears to be a sound method for fluorescence labelling of amplicons in genotyping with simple sequence repeats (SSRs) using an automated sequence analyser. However, the method has not been explored in terms of performance optimisation and cost control. In this paper, we optimised the protocol for fluorescent-dUTP based SSR genotyping in a case study withEucalyptus. A combination of low dNTP concentration (25 μM each) in PCR reaction and a touchdown PCR programme contributed to increase dramatically the fluorescent intensity of SSR amplicons, thereby facilitating accurate and multiplexed scoring of SSR alleles. The usefulness of the optimised protocol was demonstrated in its application to genetic mapping of SSR loci ontoE. urophyllaandE. tereticornislinkage maps constructed previously. The protocol optimised here would provide a reliable and economical assay for sequencer-based SSR genotyping in a wide range of biological applications.

scholarly journals Genetic Variants Of Cytochrome b-245, Alpha Polypeptide Gene And Premature Acute Myocardial Infarction Risk In An Iranian Population

2015 ◽  
Vol 34 (4) ◽  
pp. 402-408 ◽  
Author(s):  
Fatemeh Amin ◽  
Mohammad Mehdi Jahani ◽  
Hamid Ghaedi ◽  
Behnam Alipoor ◽  
Ahmad Fatemi ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Cytochrome B ◽  
Iranian Population ◽  
Pcr Rflp ◽  
Nadph Oxidase Complex ◽  
Study Population ◽  
Polymerase Chain ◽  
Artery Disease ◽  
Significant Statistical Association

SummaryBackground:Oxidative stress induced by superoxide anion plays critical roles in the pathogenesis of coronary artery disease (CAD) and hence acute myocardial infarction (AMI). The major source of superoxide production in vascular smooth muscle and endothelial cells is the NADPH oxidase complex. An essential component of this complex is p22phox, that is encoded by the cytochrome b-245, alpha polypeptide (CYBA) gene. The aim of this study was to investigate the association of CYBA variants (rs1049255 and rs4673) and premature acute myocardial infarction risk in an Iranian population.Methods:The study population consisted of 158 patients under the age of 50 years, with a diagnosis of premature AMI, and 168 age-matched controls with normal coronary angiograms. Genotyping of the polymorphisms was performed by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).Results:There was no association between the genotypes and allele frequencies of rs4673 polymorphism and premature acute myocardial infarction (P>0.05). A significant statistical association was observed between the genotypes distribution of rs1049255 polymorphism and AMI risk (P=0.037). Furthermore, the distribution of AA+AG/GG genotypes was found to be statistically significant between the two groups (P=0.011).Conclusions:Our findings indicated that rs1049255 but not rs4673 polymorphism is associated with premature AMI.

scholarly journals Frequency of CCR5-Δ32, CCR2-64I and SDF1-3'A alleles in HIV-infected and uninfected patients in Istanbul, Turkey

2021 ◽  
Vol 15 (08) ◽  
pp. 1183-1189
Author(s):  
Muammer Osman Köksal ◽  
Baki Akgül ◽  
Hayati Beka ◽  
Sevgi Çiftçi ◽  
Fahriye Keskin ◽  
...  
Keyword(s):  
Turkish Population ◽  
Cell Entry ◽  
Hiv Positive ◽  
Limited Information ◽  
Susceptibility To Infection ◽  
Immunodeficiency Virus ◽  
Pcr Rflp ◽  
Genes Encoding ◽  
Polymerase Chain ◽  
The City

Introduction: Co-receptors involved in cell entry of the human immunodeficiency virus (HIV) and mutations in genes encoding their ligands may play a role in the susceptibility to infection and resistance to the progression of the infection. The best studied mutations that can exist in these genes are the CCR5-Δ32, CCR2-64I and SDF1-3'A mutations. The frequency of these mutations vary from continent to continent and even from region to region. However, there is limited information on their distribution throughout the Turkish population. Istanbul is the city with the highest number of documented HIV-infected patients in Turkey, which can be attributed to the population size. The aim of this study was to determine the distribution of three AIDS-related gene variants among HIV-infected and uninfected population in Istanbul, Turkey and to estimate the contribution of these variants to susceptibility or resistance to HIV. Methodology: A total of 242 healthy individuals and 200 HIV-positive patients were included in the study. CCR5 polymorphisms were genotyped by polymerase chain reaction. CCR2 and SDF1 polymorphisms were genotyped using PCR restriction fragment length polymorphism (PCR-RFLP). Results: The allelic frequencies for CCR5-Δ32, CCR2-64I and SDF1-3’A were 4.07%, 19.8% and 28.7%, respectively. No individual was found to carry the homozygous CCR5-Δ32 mutation in either cohort. No polymorphism was found to be significantly elevated in the HIV-infected cohort compared to the healthy group. Conclusions: The distribution of CCR5-Δ32, CCR2-64I, and SDF1-3'A variants does not differ between HIV-infected and uninfected patients. CCR2-64I and SDF1-3'A frequencies are relatively high where as the frequency of CCR5-Δ32 is low.

scholarly journals XRCC1 A910G Polymorphism and Gastric Cancer Risk in an Brazilian Population in the Amazon Region

2019 ◽  
pp. 1-5
Author(s):  
Gabriel Neto Oliveira ◽  
Olavo Magalhães Picanço Jr ◽  
Artemis Socorro do N. Rodrigues
Keyword(s):  
Gastric Cancer ◽  
Cancer Patients ◽  
Rflp Analysis ◽  
Control Group ◽  
Chain Reaction ◽  
Pcr Rflp ◽  
Study Population ◽  
Polymerase Chain ◽  
Gastric Cancer Patients ◽  
The City

The objective of this study was to examine the association between the XRCC1 A910G polymorphism in gastric cancer patients in the city of Macapá, State of Amapá, Amazonia, Brazil.  DNA samples were obtained from 102 individuals, of which 40 were cancer patients and 62 controls. Polymerase Chain Reaction (PCR) was carried out to detect polymorphism, followed by PCR-RFLP analysis with the restriction enzyme HhaI. Of the 40 patients analysed, 22.5% had the Thr910Thr (A/A) genotype, while Ala910Ala (G/G) and Thr910Ala (A/G) genotypes accounted for 25% and 52.5% of samples, respectively. In the control group, of the 62 samples analysed, 74.1% had the Thr910Thr (A/A) genotype, while Ala910Ala (G/G) and Thr910Ala (A/G) represented 9.6% and 16.1% of samples, respectively. Our findings demonstrate that A910G polymorphism was found in most of the patients with gastric cancer in the study population. The G allele was frequently found in the analysed samples, as also observed in the genotype frequency, where AG and GG genotypes were present in cancer patients. This is the first study in Brazil to report the association between A910G polymorphism and gastric cancer.

scholarly journals Evaluation of the association between AT1R1166C polymorphism and the incidence of cad and CAC score in the Iranian population

2012 ◽  
Vol 64 (2) ◽  
pp. 401-407
Author(s):  
Hooshang Mohammadpour ◽  
Saeed Nazemi ◽  
Maryam Foroughi ◽  
Maryam Ghorbani ◽  
Jamal Shamsara ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Calcium Score ◽  
Blood Leukocytes ◽  
A1166c Polymorphism ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Study Population ◽  
Polymerase Chain ◽  
And Control

Most of the physiological effects of Ag II are mediated by the angiotensin II type 1 receptor. Polymorphisms of the AT1R gene can affect the function of this receptor and subsequent atherogenic activity. In this study we investigated the correlation between AT1R A1166C polymorphism and coronary artery calcification (CAC), a marker of the coronary artery burden. Fifty CAD patients and fifty healthy individuals fulfilled the inclusion and exclusion criteria entered this study. CAC was determined in the left main coronary artery (LMCA), left coronary artery (LCA), right coronary artery (RCA) and CX by CT-angiography and a blood sample was taken at this time. DNA extracted from whole blood leukocytes was analyzed by the polymerase chain reaction - restriction fragment-length polymorphism (PCR-RFLP) assay. There were no significant differences in genotype and allele frequencies between the CAD and control groups. The mean calcium score was compared in genotypes and alleles and no significant difference was seen. In addition, the frequency of genotypes and alleles was not significantly different in the calcium score groups (low<100, medium= 100-400, high >400). An analysis was performed separately in males and females and no significant correlation was found. According to our results, no association was found between AT1R1166C polymorphism and the incidence of CAD and CAC score in our study population.

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