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Impact of TYMS gene polymorphism on the outcome of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients – identification of novel single nucleotide polymorphism: Cross-sectional study
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The current work aims to evaluate the association between genetic mutations in thymidylate synthetase (TYMS gene in exon1 and partial regions of promotor and intron 1 [877 bp, 657,220–658,096 bp]) and the therapeutic outcomes for rheumatoid arthritis (RA) Iraqi patients. An observational cross-sectional study involving 95 RA patients with established RA patients based on their methotrexate treatment responsiveness. Genetic sequencing of the TYMS gene was performed for all patients according to the instruction manuals of the sequencing company (Macrogen Inc. Geumchen, South Korea). Four polymorphisms were identified by sequencing 95 randomly selected patients in the noncoding region of TYMS. Three of these polymorphisms were found in the NCBI database’s dbSNP (rs2853741, rs2606241, and rs2853742 SNPs), and one SNP polymorphism is novel (657334). The CTAT (657334, rs2853741, rs2606241, and rs2853742 SNPs) haplotype was significantly associated with responder with odd ratio, 95% confidence interval: 0.506, 0.281–0.912 (P value = .022). In contrast, the other haplotypes were not associated with MTX responsiveness. In the multivariate analysis, after adjusting to the effect of age, sex, smoking, and disease duration, the TCrs2853741 genotype was associated with non-responders (P value = .030). In contrast, the ACrs260641 genotype, after adjusting to the effect of age, sex, and smoking, was associated with non-responders (P value = .035). Genetic polymorphism of the TYMS gene, especially in TCrs2853741 and ACrs260641, predicts non-responder to MTX treatment in RA, while the presence of the CTAT haplotype predicts a good response to MTX treatment.

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Publication Date
Wed Jan 01 2020
Journal Name
Plant Archives
A novel finding of il-9 genetic polymorphism (rs17317275) and serum level in rheumatoid arthritis patients infected with CMV
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RA is a complex chronic disease, primarily affects the lining of the synovial joints and can cause progressive disability, premature death, and socioeconomic burdens. The clinical manifestations of symmetrical joint involvement include arthralgia, swelling, redness, and even limiting the range of motion. The pathogenesis is not known therefore the study included Rheumatoid arthritis (RA) is one of systemic inflammatory diseases that characterized by a progressive disabling course. The study included patients suffering from RA and as healthy controls. immunological and genetic factor were evaluated in each subject by using serum level of cytokine and genetic factor. The etiopathology of the disease is not well known for this reason the study

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Publication Date
Mon Apr 01 2019
Journal Name
Biochem. Cell. Arch
Association Of – 1195a/g Single Nucleotide Polymorphism Of Cyclooxygenase-2 Gene With The Severity Of Chronic Periodontitis In An Iraqi Population
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Chronic periodontitis (CP) is an inflammatory disease affecting tooth supporting structures in response to bacterial dental plaque causing irreversible tissue destruction. Cyclooxygenase-2 (COX-2) is an effective mediator in the pathogenesis of periodontitis. Polymorphisms in the COX-2 gene may contribute to its overexpression and increased disease susceptibility. To evaluate the association between -1195 A/G single nucleotide polymorphism (SNP) in the promotor area of the cyclooxygenase-2(COX-2) gene and severity of chronic periodontitis in a sample of Iraqi population. -1195A/ G COX-2 SNP was investigated in 70 chronic periodontitis (CP) cases and 30 healthy controls. CP cases composed of 2 subgroups (35 moderate CP cases and 35 severe CP

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Publication Date
Sat Sep 30 2023
Journal Name
Romanian Journal Of Rheumatology
Association between genetic polymorphism in tumor necrosis factor-alpha gene and adverse effects of etanercept in rheumatoid arthritis patients
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Background. Gene polymorphisms affect etanercept’s pharmacokinetics, pharmacodynamics, and side effects. This effect is evidenced by the extensive genetic variation in the drug’s targets. Objectives. This study aims to find the association between different genotypes of the promoter region of the TNF-α gene at -308G/A(rs1800629), -857C/T(rs1799724), -863 C/A(rs1800630), -1031 T/C (rs1799964), -806 C/T (rs4248158) and -376 G/A (rs1800750) and the side effects of ETN that occurred to Iraqi RA patients. Method. The trial included patients with rheumatoid arthritis who had been using ETN for at least six months. The participants were from the Baghdad Teaching Hospital Rheumatology Unit. The PCR was sequenced to determine the polymo

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Publication Date
Sat Dec 30 2023
Journal Name
Iraqi Journal Of Science
Association of rs965513 Polymorphism Near FOXE1 Gene with Papillary Thyroid Carcinoma in a sample of Iraqi patients
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     Thyroid carcinoma incidence is increasing yearly and ranks second among the top ten cancers in Iraq, especially among women. The single nucleotide polymorphism (rs965513, A>C) near FOXE1 gene was found to be associated with papillary thyroid carcinoma risk in several Genome-wide association studies. Therefore, this is a case-control study aimed at identifying whether this variation is associated with the risk of papillary thyroid carcinoma in the Iraqi population. Association of rs965513 was investigated in one hundred and one papillary thyroid carcinoma Iraqi patients and one hundred and two controls using quantitative PCR-high resolution melting technique. The results of genotype and allele frequencies showe

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Publication Date
Fri Dec 30 2022
Journal Name
Iraqi Journal Of Science
MTHFR Gene Polymorphisms in Iraqi Kurdish Rheumatoid Arthritis Patients: Relation to Methotrexate Response and Toxicity
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     Methotrexate (MTX) is still one of the gold standard treatments for rheumatoid arthritis (RA). It shows diverse outcomes in blood level and clinical response, this was demonstrated by its relation to the genetic polymorphism in the pharmacogenetic study. This study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in relation to MTX efficacy and toxicity in Iraqi Kurdish RA patients. Sixty-four RA patients were involved in this study with an average age of 47.78 ±14.08 and female to male ratio of (8.1). Diagnosis and disease activity were confirmed. Blood analyses, including those of laboratory markers of disease activity, were done. The 28 joint disease activity score (DAS28-CRP) w

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Publication Date
Tue Jun 30 2015
Journal Name
Al-kindy College Medical Journal
Extrapituitary prolactin –1149 G/T promoter polymorphism in some rheumatoid arthritis patients
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Background: Prolactin is a hormone, as well as a cytokine which is synthesized and secreted from the anterior pituitary gland and various extra pituitary sites including immune cells under control of a superdistal promoter that contains a single nucleotide polymorphism -1149 G/T. Rheumatoid Arthritis has been associated with increased serum prolactin levels.Objectives: To investigate the association of the extra pituitary -1149 G/T promoter polymorphism among Iraqi rheumatoid arthritis patients and prolactin levels.Methods: We tested 73 patients with rheumatoid arthritis and 40 healthy individuals. The DNA samples were genotyped using the Polymerase Chain Reaction-Restriction fragment Length Polymorphism method and the levels of prolacti

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Publication Date
Thu Mar 03 2022
Journal Name
Archives Of Rheumatology
Association of tumor necrosis factor-alpha promoter region gene polymorphism at positions -308G/A, -857C/T, and -863C/A with etanercept response in Iraqi rheumatoid arthritis patients
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Objectives: This study aims to evaluate the association between polymorphisms in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene at locations -308G/A, -857C/T, and -863C/A with the tendency of being non-responder to etanercept.

Patients and methods: Between October 2020 and August 2021, a total of 80 patients (10 males, 70 females; mean age: 50 years; range, 30 to 72 years) with rheumatoid arthritis (RA) receiving etanercept for at least six months were included. The patients were divided into two groups responders and non-responders, based on their response after six months of continuous treatment. Following polymerase chain reac

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Publication Date
Fri Mar 10 2023
Journal Name
Aspac J. Mol. Biol. Biotechnol
Influence of IL-28B serum level and gene polymorphism in a sample of Iraqi patients with ankylosing spondylitis
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Ankylosing spondylitis (AS) represents one kind of advanced arthritis formed via inflammatory stimuli long-term in the spin‘s joints. Interleukin (IL)-29 (interferon- lambda1(IFN- λ1)), interleukin (IL)-28A (interferon- lambda 2 (IFN- λ2)) and interleukin (IL)-28B (interferon- lambda 3(IFN-λ3)) are three interferon lambda (IFN- λs) molecules that have recently been identified as new members of the IFN family. IL-28B expression in ankylosing spondylitis (AS) is not well understood. 150 male healthy controls ((HC) and 160 males with AS as patients group participated in this study. Serum level and gene polymorphism were assessed using an enzyme-linked immunosorbent assay and Sanger sequencing for IL-28B, respectively. The results showed

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Publication Date
Mon Feb 01 2021
Journal Name
Meta Gene
Evaluation of interleukin-9 serum level and gene polymorphism in a sample of Iraqi type 2 diabetic mellitus patients
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Background: Diabetic mellitus (DM) is a collection of metabolic disorder identified by hyperglycemia. The heterogeneous etiology includes defects either in insulin secretion, or in insulin action, or the both. In addition to the distraction in carbohydrate, fat and protein metabolism. Inflammatory reaction that caused by many pro-inflammatory cytokines play a central role in the pathogenicity of T2DM, these cytokines can enhance insulin resistance which led to impaired glucose homeostasis. Subjects: The study included 75 patients (38 males and 37 females) suffering from T2DM with age mean ± SE 52.30 ± 1.60, and 70 individuals as healthy controls (35 males and 35 females) with age mean ± SE 48.88 ± 0.64. Evaluation of immunological marke

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Publication Date
Sun Jan 01 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Evaluation of Interleukin-9 Serum Level and Gene Polymorphism in A Sample of Systemic Lupus Erythematosus in Iraqi Female's Patients.
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Background Immunological gene and serum level for interleukin- 9 rs 17317275 have been established to have linked to predisposition systemic lupus erythematosus (SLE) and its severity. SLE is a severe, systemic autoimmune disease characterized by autoantibody generation, complement activation, and immune complex deposition. In the pathophysiology of SLE, cytokines have a pleiotropic function. Recently, IL-9 was discovered to mediate strong anti-inflammatory effects in numerous cells or experimental autoimmune models. Objective This study aimed to determine the role of age, IL-9 serum level and genetic polymorphism, C-reactive protein (CRP), Anti-nuclear antibody (ANA) and Anti- double-stranded DNA (anti-dsDNA) to recognize SLE pathogenesis.

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