ABSTRACT
BACKGROUND: Clinical studies have reported a significant association between matrix metalloproteinases (MMP), particularly (MMP-9), and inflammatory diseases including Behçet's disease (BD). PURPOSE: To study the relationship between MMP-9 rs17576 gene polymorphism and the development of BD, and its relation to disease activity among Egyptian patients. METHODS: A total of 100 BD patients and 100 healthy control volunteers were genotyped for MMP-9 rs17576 polymorphism with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), followed by the confirmation of our results in random subgroups using direct DNA sequencing technique. RESULTS: The frequency of the GG genotype and G allele was significantly higher in BD patients as compared to the normal controls (p = 0.011, OR 8.61; p = 0.03, OR 1.65, respectively). There was no significant association between the MMP-9 rs17576 polymorphism and the clinical outcomes of BD. CONCLUSION: our study suggests a significant association of the MMP-9 rs17576 A/G polymorphism with increased risk of BD development in Egyptian patients.
Subject(s)
Behcet Syndrome/genetics , Genetic Predisposition to Disease , Matrix Metalloproteinase 9/genetics , Polymorphism, Single Nucleotide , Adult , Alleles , Base Sequence , Behcet Syndrome/diagnosis , Behcet Syndrome/pathology , Case-Control Studies , Egypt , Female , Gene Expression , Gene Frequency , Humans , Male , Polymorphism, Restriction Fragment Length , Promoter Regions, Genetic , Risk , Sequence Analysis, DNAABSTRACT
BACKGROUND: We investigated the diagnostic and prognostic value of urinary programmed death 1 (PD-1) and FOXP3 (Forkhead transcription factors) mRNA in acute renal allograft rejection. MATERIAL AND METHODS: Urine samples from 31 acute renal allograft rejection subjects and 23 stable recipients were collected. Messenger RNA of PD-1 and FOXP3 were analyzed with real-time RT-PCR. The associations with acute rejection, disease severity, and outcome were investigated. RESULTS: Both PD-1 and FOXP3 mRNA were higher in acute rejection than subjects with stable grafts. In acute rejection, PD-1 and FOXP3 mRNA were significantly correlated with serum creatinine and Banff histological grade. Both PD-1 and FOXP3 mRNA performed well in diagnosing acute rejection (AUC 0.81 and 0.91, respectively). However, a combination of both FOXP3 mRNA at cutoff level 1.5 and PD-1 mRNA at cutoff level 2.6 had 94% sensitivity, 97% specificity, and AUC 0.98 in diagnosing acute rejection. Only FOXP3 mRNA was correlated with rejection reversibility and predicted graft salvage (98% sensitivity, 87% specificity, and AUC 0.93) at cutoff level 1.7. CONCLUSIONS: PD-1 and FOXP3 mRNA were high in acute rejection, and performed well in diagnosing rejection episodes, and were correlated with rejection severity. The combination of FOXP3 and PD-1 mRNA had better sensitivity and specificity in diagnosing acute rejection than each separately. Only FOXP3 anticipated rejection outcome.
Subject(s)
Forkhead Transcription Factors/urine , Graft Rejection/diagnosis , Kidney Transplantation , Programmed Cell Death 1 Receptor/metabolism , Adult , Biomarkers/urine , Case-Control Studies , Cross-Sectional Studies , Egypt , Female , Forkhead Transcription Factors/genetics , Graft Rejection/urine , Humans , Male , Prognosis , Programmed Cell Death 1 Receptor/genetics , RNA, Messenger/metabolism , Real-Time Polymerase Chain Reaction , Reverse Transcriptase Polymerase Chain Reaction , Sensitivity and Specificity , Transplantation, HomologousABSTRACT
OBJECTIVE: To evaluate serum anti-C1q antibodies as a biomarker of systemic lupus erythematosus (SLE) flare and as a proposed noninvasive alternative to renal biopsy which is still the "gold standard" to determine renal activity in SLE. METHODS: Serum anti-C1q antibodies were measured in our patients (all were females), they were followed at the nephrology and pediatric nephrology units at the Faculties of Medicine of Cairo University and Misr University for science and technology (MUST). Our study included 120 patients in the pediatric and adolescent age group and they were categorized into three groups with (mean ± SD of 16.7 ± 3, 16.1 ± 2, 15.9 ± 3) respectively: Group 1 including 40 patients with SLE and active lupus nephritis; Group 2 including 40 patients with SLE and without active lupus nephritis, but with some extra renal activity mainly arthritis; and Group 3 including 40 healthy subjects. RESULTS: Anti-C1q antibodies were found to be significantly higher in patients with active lupus nephritis than those without active nephritis than control individuals with a median (range) of [27.5 (14 - 83), 9 (2.5 - 30), 7 (2 - 13)] respectively. In those with active lupus nephritis, anti-C1q was found to correlate significantly with other parameters assessing lupus nephritis activity like C3 (r = -0.33, p < 0.04), C4 (r = -0.32, p < 0.044), daily urinary protein excretion (r = 0.32, p < 0.036), renal SLEDAI (r = 0.64, p < 0.001), and activity index (r = 0.71, p < 0.001). CONCLUSIONS: Anti-C1q antibodies can be used as a considerable marker for LN activity in that age group with 97.5% sensitivity and 65% specificity with the cutoff level 12 U/l. These levels are clearly higher than those for traditional markers of disease activity such as C3/C4 consumption and anti-dsDNA.
