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This study examined the genotype, allelic frequencies (polymorphisms) in a sample of Egyptian patients and examined the relationship between disease activity in systemic lupus erythematosus (SLE) and the B lymphoid tyrosine kinase (BLK) and B-cell scaffold protein with ankyrin repeats 1 (BANK1) gene. This case control study involved 70 SLE patients and 40 subjects matched for age and sex as a control group. Clinical data were gathered from each participant, including SLE-related clinical activity indicators. Utilizing the restriction fragment length polymorphism (RFLP)-polymerase chain reaction (PCR), the single nucleotide polymorphisms (SNPs) BLK rs13277113G/A and BANK1 rs10516487G/A were assessed. The most prevalent genotype among the study participants was BLK rs13277113; G/G (57.1%), and BANK rs10516487; GG/ genotype (74.3%). There were no substantial variations in the incidence of genotype and allelic polymorphism between patients and controls (p>0.05). In the studied SLE patients, however, there was no significant association between both alleles (BANK rs10516487 gene alleles, G/G and G/A and BLK rs13277113, G/A, G/G and A/A) and the SLE disease activity score. While there was a significant association between BLK rs13277113 genotype alleles and age. In conclusion, BLK rs13277113 G/A and BANK1 rs10516487 G/A alleles showed no difference between SLE Egyptian patients compared to controls with no link between both genes and SLE disease activity., (Copyright© by the Egyptian Association of Immunologists.)

Cerebral ischemic stroke has a significant mortality rate and persistent impairment. The initial diagnosis of stroke occurs by magnetic resonance imaging and computed tomography. There is a strong need for more accessible, less expensive, and non-invasive methods besides the neuroimaging methods. MicroRNAs (miRNAs) are critical regulators for ischemic stroke as they are involved in stroke pathophysiology. The goal of the current study was to determine whether microRNA-221 (miR-221) could be used as a diagnostic biomarker for patients with ischemic stroke, and whether it can serve as a promising indicator of the disease severity especially if combined with interleukin-6 (IL-6). The study included 90 subjects, 45 cerebral ischemic stroke patients and 45 controls. MiR-221 was evaluated by quantitative real-time polymerase chain reaction (q-PCR) and IL-6 by enzyme-linked immunosorbent assay (ELISA). Our study results revealed that the serum miR-221 level was significantly reduced in cerebral ischemic stroke patients when compared to the control group (p<0.0001). In addition, serum miR-221 showed a significant negative correlation with cerebral stroke severity (p<0.0001), whereas serum IL-6 showed a significant positive correlation with cerebral stroke severity (p < 0.0001). We also analyzed the receiver operator characteristic (ROC) curve and found that area under the ROC curve (AUC) for severity of ischemic stroke by miR-221 was 0.97 (95% confidence intervall0.93-1, p<0.001). Notably, the combination of serum miR-221 with IL-6 for prediction of ischemic stroke severity showed both increased sensitivity/specificity (AUC=0.99, 95% confidence interval 0.96-1, p<0.001) than miR-221 alone. We concluded that miR-221 constituted a non-invasive, sensitive, and specific biomarker that could be used for diagnosis of ischemic stroke and for prediction of its severity., (Copyright© by the Egyptian Association of Immunologists.)

Rheumatoid arthritis (RA) is characterized by ongoing joint destruction. MicroRNAs (miRs) are blood-based biomarkers linked to RA pathogenesis. The musculoskeletal ultrasonography seven-joint score (US7) is an objective tool to assess RA activity. We aimed to evaluate miR-223 and miR-16 roles in monitoring RA activity and to investigate if there is a link between their plasma levels and US7 score. This study enrolled 76 RA patients classified according to Disease Activity Score 28-joint count with erythrocyte sediment rate (DAS28-ESR) to inactive cases (n = 38) and active cases (n = 38). Each patient's joint was scored for synovial proliferation (gray-scale ultrasound 'GSUS7') and vascularization (power Doppler ultrasound 'PDUS7'). Real-time quantitative PCR was used to measure the expression levels of miR-16 and miR-223 in plasma. When compared to inactive group, the active group revealed significant upregulation of miR-16 and miR-223, (P = 0.001 and P = 0.02, respectively). miR-16 and miR-223 levels were correlated with synovitis PDUS7 (r = 0.34, p < 0.01 and r= 0.25, P = 0.03, respectively). miR-16 was also positively correlated with synovitis GSUS7 (r= 0.42, p < 0.001). miR-223 upregulation discriminated active from inactive RA patients at AUC = 0.64, with 76% sensitivity and 50% specificity at cutoff > 2.8-fold change), whereas miR-16 distinguished the two groups at AUC = 0.78 with 87% sensitivity and 53% specificity at cutoff >38.27-fold change. In conclusion, upregulated miR-16 may have more potential to serve as activity biomarkers than miR-223 in RA. The miR-16 level was linked to synovitis GSUS7 and synovitis PDUS7 changes but miR-223 only linked to synovitis PDUS., (Copyright© by the Egyptian Association of Immunologists.)