Contribution of coagulation factor VII R353Q polymorphism to the risk of thrombotic disorders development (venous and arterial): A case-control study

Background: Elevated factor VII (FVII) level is a risk factor for thromboembolic disorders. It was reported that the FVII R353Q polymorphism is associated with variation in plasma FVII levels, where Q allele carriers were more associated with lower levels of FVII than R allele carriers. However, the association between coagulation FVII R353 Q polymorphisms and the risk of thrombosis is uncertain.Aim of the study: Is to investigate the contribution of factor VII R353Q gene polymorphism to the risk of thrombotic disorders development (venous and arterial) in a group of Egyptian patients.Subjects and methods: This study was conducted on 310 subjects: 110 acute myocardial infarction (AMI) patients, 108 deep venous thrombosis (DVT) patients and 92 healthy controls. FVII R353Q genotypes were assessed using restriction fragment length polymorphism analysis.Results: There were no statistically significant differences in the frequency of FVII R353Q polymorphism between each of the AMI and DVT patients and the control group (P = 0.9, 0.1). However the Q allele showed a significantly higher frequency in the AMI group (15.4%) vs. controls (8.7%) (OR: 1.92; 95% CI: 0.98–3.7). Bivariate analysis demonstrated no significant association between FVII R353Q genotypes and different studied risk factors, neither in arterial nor venous thrombosis.Conclusion: FVII R353Q polymorphism did not contribute to an increased risk of thrombosis (arterial and venous); also carrying the Q allele (of R353Q) did not confer protection against acute thrombotic events

Serum interferon-alpha level in first degree relatives of systemic lupus erythematosus patients: Correlation with autoantibodies titers

AbstractBackground and objectivesInterferon-α (IFN-α), a cytokine with both antiviral and immune-regulatory functions, was suggested as a useful tool which can evaluate current systemic lupus erythematosus (SLE) disease activity and identify patients who are at risk of future disease flares. In the current study, serum IFN-α levels and associated demographic, and serological features in Egyptian SLE patients and their first degree relatives (FDRs) in comparison to unrelated healthy controls (UHCs) were examined, in order to identify individuals at the greatest risk for clinical illness.MethodsIn a cross-sectional study, blood samples were drawn from 54 SLE patients, 93 of their FDRs who consented to enroll into the study and 76 UHCs. Measurement of serum IFN-α by a modified ELISA was carried out. Data were analyzed for associations of serum IFN-α levels with autoantibodies titer.ResultsMean serum IFN-α in FDRs was statistically higher than the UHCs and lower than in SLE patients (P<0.0001) and it was correlated with ANA titer (r=0.6, P<0.0001) and anti ds DNA titer (r=0.62, P<0.0001).ConclusionIFN-α is a crucial player in the complicated autoimmune changes that occur in SLE and serum IFN-α can be a useful marker identifying persons who are at risk of future disease development

Upregulation of CD40/CD40L system in rheumatic mitral stenosis with or without atrial fibrillation

Platelet activation occurs in peripheral blood of patients with rheumatic mitral stenosis (MS) and atrial fibrillation (AF) and could be related to abnormal thrombogenesis. The CD40/CD40 ligand (CD40L) which reflects platelet activation, mediate a central role in thrombotic diseases. However, the role of CD40/CD40L system in rheumatic MS with or without AF remains unclear. Expressions of CD40 on monocytes and CD40L on platelets were determined by whole blood flow cytometry and serum levels of soluble CD40L were measured by enzyme-linked immunosorbent assay in group 1 (19 patients with MS) and group 2 (20 patients with MS and AF) compared to group 3 (10 controls). Patients with groups 1 and 2 had a significant increase in expression of CD40 on monocytes (P1 and P21/40.000) and serum levels of sCD40L (P11/40.014 and P21/40.033, respectively), but nonsignificant increase in expression of CD40L on platelets (P11/40.109 and P21/40.060, respectively) as compared to controls. There were no significant difference in all the parameters in group 1 compared to group 2. Correlation analysis demonstrated that there was a significant direct relationship between the severity of MS and serum levels of sCD40L (r1/4_0.469, p1/4 0.043). In conclusion, rheumatic MS patients with or without AF had upregulation of the CD40/CD40L system as well as elevated sCD40L levels. The levels of sCD40L had a significantly direct relationship with the severity of MS and it was the stenotic mitral valve, not AF, that had a significant impact on platelet activation