Systemic lupus erythematosus (SLE) is a multifactorial chronic autoimmune disease, with a wide spectrum of effect. The main feature of the disease is the production of a wide variety of autoantibodies as a result of immune tolerance loss. The work aims to evaluate the miRNA-146a gene polymorphism potential association with disease activity and chronicity changes in SLE patients. The study included 100 SLE patients and 50 matched controls. The systemic lupus erythematosus disease activity index (SLEDAI) was assessed. The single nucleotide polymorphism (SNP) of miR-146a gene (rs2910164) polymorphism was assayed by polymerase chain reaction (PCR) and sequencing technique in patients and control. 100 SLE patients were all females and with a mean of age 31.3 ± 10 years (16-63years) and disease duration of 5.8 ± 3.7years (1 month to 15 years). Most clinical manifestations presented in patients were 52% malar rash, 45% oral ulcers, 54% arthritis, and 45% neurological disorder. Proteinuria, ESR, creatinine and AST were significantly higher (65% vs. 10%, 4.1±36.1 vs. 11.8±9.9 mm/hr, 0.62±0.11 vs. 0.70±0.14 mg/dl and 25.37±26.50 vs. 17.23±3.58 U/L respectively) while the PLT was significantly lower (231.9±88.8 vs. 282.3±67.3 103/mL) (p< 0.001) among SLE patients as compared to control. There were no significant variations in all study parameters across miRNA-146a genotypes (p greater than 0.05). There was a significant association of the homozygote GG genotype (66.7%) with the active SLE state (p=0.013). In conclusion, the results suggest a risk effect for the female gender and adult at a young age in the etiology of SLE. The miRNA-146a GG genotype is associated with increasing the disease activity and miRNA-146a polymorphism is not associated with the risk in SLE.
The expression of the Proprotein Convertase Subtilisin/Kexin Type 9 gene (PCSK9) is inextricably related to lipid levels and a risk of atherosclerotic coronary artery disease (ASCAD). The present study aims to measure the quantity of PCSK9 gene expression and the effect of methylation on its expression level taking part in the pathogenesis of acute coronary artery disorder.
A current study included 150 subjects from the Iraqi population, 100 ASCAD patients and 50 healthy controls. The concentration of PCSK9 in each serum sample was determined by the ELISA technique, the expression levels of the PCSK9 gene in whole blood were estimated by RT-qPCR – Quantitative Reverse Transcription PCR method, and DNA
... Show MoreBackground: Excision repair cross-complementing group 2 gene (ERCC2) polymorphisms have been linked as being a risk factor for colorectal cancer (CRC) emergence. However, data from several studies are contradictory. To validate genetic biomarkers of the CRC; the impact of the following ERCC2 polymorphism (rs1799793 and rs238406) was examined on CRC susceptibility among sample of Iraqi population. Methods: A total of 126 subjects were enrolled in this case control study; 78 CRC patients and 48 apparently healthy individuals who are age, gender, smoking status and BMI matched. Polymerase chain reaction (PCR) was used for genotyping, followed by sequencing then the association between genetic polymorphisms and CRC risk was investigate
... Show MoreBackground: Hypothyroidism is the most abundant thyroid disorder worldwide. For decades, levothyroxine was the main effective pharmacological treatment for hypothyroidism. A variety of factors can influence levothyroxine dose, such as genetic variations. Studying the impact of genetic polymorphisms on the administration of medications was risen remarkably. Different genetic variations were investigated that might affect levothyroxine dose requirements, especially the deiodinase enzymes. Deiodinase type 2 genetic polymorphisms’ impact on levothyroxine dose was studied in different populations.
Objective: To examine the association of the two single nucleotide polymorphism (SNP)s of deiodinase t
... Show MoreToll-like receptors (TLRs) play a key role in innate immune response activation against viruses. TLR7, one of the TLRs family, is potentially important in controlling viral infection and the production of vaccines against the virus. The wide spectrum of discrepancy in response to antiviral drugs among different populations which is emerged by some pandemics like COVID-19 might be due to their different TLR7 single nucleotide polymorphisms (SNPs). The present study aimed to investigate the consequences of 401 non-synonymous missense SNPs (nsSNPs) within TLR7 on its protein structure, stability, and function by using specific bioinformatics tools. Seven bioinformatics tools were used to investigate 401
... Show MoreBreast cancer (BC) is one of the most frequently observed malignancy in females worldwide. Today, tamoxifen (TAM) is considered as the highly effective therapy for treatment of breast tumors. Oxidative stress has implicated strongly in the pathophysiology of malignancies. This study aimed to investigate the changes in the levels of oxidants and antioxidants in patients with newly diagnosed and TAM-treated BC. Sixty newly diagnosed and 60 TAM-treated women with BC and 50 healthy volunteers were included in this study. Parameters including total oxidant capacity (TOC), total antioxidant capacity (TAC), and catalase (CAT) activity were determined before and after treatment with TAM. The serum levels of TOC and oxidative stress index (OSI) were
... Show MoreBackground: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers. This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique
Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin
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