Evaluation of CTLA-4 (+ 49A/G) polymorphism association with rheumatoid arthritis in Egyptian patients.

Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is an inhibitory molecule that has an essential role in T-cell homeostasis and self-tolerance because of its inhibitory signals. Genetic polymorphisms in the CTLA-4 gene have been associated with several autoimmune diseases. We aimed to assess the association between the CTLA-4 +49 A/G polymorphism (rs231775) and rheumatoid arthritis (RA) in Egyptian RA patients. The study included 104 RA patients and 81 apparently healthy control individuals. The polymorphism was assessed using restriction fragment-length polymorphism analysis. Genotype distribution was compared between patients and controls under different models of inheritance. Under the codominant model, RA patients showed a higher frequency of AG and GG genotypes compared to the control subjects (p=0.0092). Under the dominant model, RA patients showed a higher frequency of AG and GG genotypes grouped together compared to control subjects (p=0.0026). Under the over-dominant model, the AG genotype was more frequent in RA patients compared to control subjects (p= 0.0395). No association was observed between CTLA-4 polymorphism rs231775 and RA using the recessive model (p=0.1356). A significant association was observed between carrying the G allele and the presence of RA (p=0.0032). In conclusion, our findings showed a positive association between the CTLA-4 gene +49 A>G polymorphism and RA. However, discrepancies in literature reflect both ethnic variability in CTLA-4 gene polymorphisms as well as the complex pathogenesis of RA.

Krebs von den Lungen-6, a promising marker in evaluating the severity of interstitial lung disease in Egyptian rheumatoid arthritis patients.

Krebs von den Lungen-6 (KL-6) is one of the mucins associated with interstitial lung disease. We aimed to assess the value of KL-6 as a marker for detecting the presence of interstitial lung disease in Egyptian rheumatoid arthritis patients and to evaluate its ability to assess severity in different grades of interstitial lung disease. The study included 89 rheumatoid arthritis patients; 64 patients with interstitial lung disease and 25 patients without interstitial lung disease. Serum levels of KL-6 were assessed using enzyme linked immunosorbent assay. Levels of KL-6 were higher in patients with interstitial lung disease compared to patients without interstitial lung disease (P< 0.001). KL-6 levels were significantly higher in grade 4 patients than those in grades 1 and 2. Also, KL-6 levels were significantly higher in grade 3 patients than those in grades 1 and 2. Kl-6 levels were also higher in grade 2 patients compared to grade 1 patients. Finally, no difference was observed between grade 4 patients and grade 3 patients. KL-6 levels were significantly higher in usual interstitial pneumonia pattern compared other patterns (P=0.015). In conclusion, KL-6 is a potential circulating biomarker that may have a substantial role in detecting the presence and evaluating the severity of interstitial lung disease among rheumatoid arthritis patients.

Vascular endothelial growth factor profile and Vitamin D level in Systemic Sclerosis Egyptian patients.

Vascular endothelial growth factor (VEGF) was described as a potentially important driver of systemic sclerosis (SSc) pathogenesis. Additionally, recent literature elucidated that vitamin D serum level was found to be significantly lower in SSc patients in comparison to healthy individuals. The aim of the current study was to evaluate serum level of VEGF and its correlation with clinical features and vitamin D level in systemic sclerosis (SSc) Egyptian patients. This current case control study included 30 female SSc patients and 20 healthy controls. VEGF level was measured by ELISA. Serum level of 25-OH vitamin D was measured by electrochemiluminescence. Nailfold video capillaroscopy and modified Rodnan skin score (mRSS) were assessed. Thirty SSc female patients were included in the study, 13 patients had diffuse cutaneous SSc. The mean age of the patients' group was 49.3±4.3years, and the mean serum VEGF level was 3445.9±1183 ng/dl. The mean serum level of vitamin D was 15.57±9.9ng/ml in SSc patients and 30.6±2.26 in the controls. There was a significant association between high level of VEGF and hypovitaminosis D. Serum level of VEGF positively correlated with nailfold capillaroscopy changes and mRSS. In conclusion, high level of VEGF is associated with hypovitaminosis D, suggesting a role of vitamin D in SSc pathogenesis. VEGF levels correlate positively with nailfold capillaroscopy changes and extent of skin involvement.