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2015
Guindy, N. E. M., H. A. E. A. Ghaffar, R. E. M. Refai, and R. E. E. Hawary, "Cytotoxic T lymphocyte antigen-4 gene polymorphism in systemic lupus erythematosus Egyptian patients", Comparative Clinical Pathology, vol. 24, issue 1, pp. 41-45, 2015. Abstract

The human cytotoxic T lymphocyte antigen-4 (CTLA-4) gene has been confirmed to be associated with several autoimmune diseases. In this study, we investigated the CTLA-4 gene polymorphism in systemic lupus erythematosus (SLE) Egyptian patients. A polymerase chain reaction was conducted to amplify CTLA-4 gene, followed by restriction fragment length polymorphism (RFLP) assay to detect candidate genetic polymorphism at positions -1722 T/C and -1661 A/G. Sixty SLE patients (55 females and 5 males) with mean age 28.5 ± 7 years and 40 healthy controls (31 females and 9 males) with mean age 27.8 ± 6.2 years were included in this study. The genotypic distribution at position -1661 of CTLA-4 gene was GG (11.7 %), AA (70 %), and AG (18.3 %) in SLE patients versus GG (20 %), AA (65 %), and AG (15 %) in the control (P value 0.508); regarding the position -1772 of CTLA-4 gene, the distribution was TT (83.3 %) and TC (16.7 %) in SLE patients versus TT (77.5 %) and TC (22.5 %) in the controls (P value 0.466). On studying the clinicopathological impact of the studied single nucleotide polymorphism (SNPs) with the disease severity, there is a statistical significance (P = 0.011) for the presence of AA genotype and severity of disease at -1661 genotype. AA genotype at -1661 was protective against discoid rash (P = 0.005), TC genotype at -1772 site is protective against serositis (P = 0.05), and serositis occurs more commonly with the AG genotype at -1661 site (P = 0.038). In our study, we concluded that the studied SNPs at positions -1772 and -1661 of CTLA-4 gene were not associated with SLE risk in Egyptian population.

Metawie, S. A., R. M. ElRefai, S. S. ElAdle, and R. M. H. Shahin, "Transforming growth factor-β1 in systemic lupus erythematosus patients and its relation to organ damage and disease activity", The Egyptian Rheumatologist, 2015. Abstract

Aim of the work

The aim of our study was to assess the serum levels of transforming growth factor-β1 (TGF-β1) in Egyptian systemic lupus erythematosus (SLE) patients in order to determine whether these levels are associated with disease activity and organ damage.

Patients and methods

Serum level of TGF-β1 was assessed in 70 Egyptian SLE patients and 60 healthy subjects using ELISA. The levels were related to clinical features, disease activity as assessed by the SLE disease activity index (SLEDAI) and damage assessed by the Systemic Lupus International Collaborating Clinics (SLICC) index.

Results

Serum levels of TGF-β1 were significantly reduced in patients with SLE compared to levels in healthy controls (875.8 ± 292.2 pg/ml vs 1140 ± 301 pg/ml, respectively) (p < 0.001). TGF-β1 levels significantly correlated with hemoglobin content, platelet counts, and inversely with the erythrocyte sedimentation rate (ESR), serum creatinine and urea. Significantly lower TGF-β1 levels were found in patients with high disease activity (SLEDAI > 10) while the level tended to be lower in those with organ damage. TGF-β1 was significantly lower in patients with serum creatinine >1.2 mg/dl than in those with <1.2 mg/dl (p = 0.003), and also in patients with glomerular filtration rate (GFR) <50 ml/min than in those with >50 ml/min (p = 0.038).

Conclusion

This study demonstrated significantly reduced serum levels of TGF-β1 in patients with SLE compared with healthy subjects. Lower serum TGF-β1 levels were associated with high disease activity and organ damage in SLE patients. A prominent role in renal damage was observed.

Keywords
Transforming growth factor-β1; Systemic lupus erythematosus; Disease activity (SLEDAI); Organ damage (SLICC)

2012
Shahin, R. M. H., N. H. M. Shaheen, G. H. Shahin, and R. M. E. Refai, "Association analysis of systemic lupus erythematosus and −1514 polymorphism of TBX21 gene in the Egyptian population", Comparative Clinical Pathology, vol. 23, issue 2, pp. 357-360, 2012. Abstract

The T-box21 (TBX21) gene encodes the transcription factor T-bet (T-box expressed in T cells), which influences naïve T lymphocyte development and has been implicated in the pathogenesis of many diseases. We aimed to assess the implication of the TBX21 gene promoter T-1514C polymorphism in susceptibility to systemic lupus erythematosus (SLE) in a cohort of Egyptian population and to study the association between the genetic polymorphism of that gene and the clinical and laboratory data of these patients. The study included 50 SLE patients. Sixty age, sex, and ethnically matched volunteers were included in the current study as a control group. The genotyping of T-1514C single nucleotide polymorphism was performed by using a polymerase chain reaction–restriction fragment length polymorphism assay. There was no statistically significant difference in the distribution of the genotypes between SLE patients and the control group in our study. No association was detected between TBX21 genotypes and the clinical features and laboratory data of the patients apart from an association with the hematologic complications (anemia, leucopenia, thrombocytopenia, or pancytopenia) with increased frequency of hematological complications in the group carrying the wild genotype (TT) (p = 0.016).

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