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.
Background
Systemic sclerosis is a complex multi-systemic autoimmune disease with a wide range of its clinical manifestations; many systemic sclerosis (SSc) patients develop musculoskeletal manifestations during their course of illness. The aim of the study is to assess the prevalence of sonographically detected entheseal alterations in a case-control study of systemic sclerosis patients and to evaluate the relationship between the presence of these alterations and the clinical systemic manifestations. Patients and controls were evaluated using B mode and power Doppler ultrasonography to detect presence of enthesitis and were scored using Madrid Sonography Enthesitis Index (MASEI).
Results
In SSc patients, the MASEI score was significantly higher than in control (P < 0.0001). Enthesitis was more prevalent among SSc patients compared to healthy controls, SSc patients with enthesitis had significantly more prevalence of diffuse subtypes (P < 0.001).SSc patients had significantly more prevalence of interstitial pulmonary fibrosis (IPF) (P < 0.001), digital ulcers (P < 0.001), pulmonary hypertension (P < 0.001), and arthralgia and arthritis (P < 0.001). Regarding nailfold capillaroscopy pattern, late pattern was significantly more prevalent among patients with enthesitis (P = 0.008). Age, ESR level, and modified Rodnan skin score were predictors for MASEI score.
Conclusions
Ultrasound features of enthesopathy were frequently presented in systemic sclerosis patients. The enthesopathy was correlated with inflammation and disease complications.
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.
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