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OBJECTIVE: Systemic Lupus Erythematosus (SLE) is an autoimmune inflammatory disease. miR-155 and miR-146a were expressed in many autoimmune diseases such as rheumatoid arthritis. The aim of this study was to examine miR-155 rs767649 and miR-146a rs57095329 polymorphisms in SLE susceptibility in an Egyptian cohort and to investigate the correlation between them and clinical data and disease activity. PATIENTS AND METHODS: The two SNPs were analyzed in 120 patients with SLE and 100 healthy controls using RT-PCR. RESULTS: The TT genotype and T allele of miR-155 rs767649 were associated with a significant increase in the risk of SLE, particularly in females. On the other hand, miR-146a (rs57095329) polymorphism was not associated with SLE risk. The AT/TT genotypes of miR-155 rs767649 showed higher distributions among patients with higher SLEDAI and nephritis. CONCLUSIONS: This study had demonstrated for the first time the association between miR-155 rs767649 and the risk of development of SLE in an Egyptian cohort, mostly in females.
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Lupus Eritematoso Sistémico/genética , MicroARNs/genética , Polimorfismo Genético/genética , Adulto , Estudios de Casos y Controles , Estudios de Cohortes , Egipto , Femenino , Humanos , MasculinoRESUMEN
BACKGROUND: Behçet's disease is a chronic relapsing and remitting autoimmune multisystem inflammatory disease characterised by oral aphthae, genital ulcers, skin lesions, gastrointestinal involvement, arthritis, vascular lesions and neurological manifestations. We hypothesised a link between rs57095329 of miR-146a and Behçet's disease, with further links with common clinical features. METHODS: We tested our hypothesis in 130 Behçet's disease patients and 131 age and sex-matched healthy controls. Behcet's disease current activity index (BDCAI) was used to assess patients' disease activity status. MiR-146a (rs57095329) was genotyped in all participants using RT-PCR and results in patients analysed according to clinical features. RESULTS: The frequency of the GG and AG genotypes in rs57095329 were strongly associated with Behçet's disease (adjusted OR 8.05, 95% CI 3.63-17.82; P < 0.001 and OR 2.26, 95% CI 1.27-4.04; P = 0.006, respectively), and in dominant (GG+AG > AA) and recessive (GG > AA+AG) models (both P < 0.001). Additionally, G allele distribution was significantly greater in Behçet's disease compared with controls (OR 2.85, 95% CI 1.98-4.11, P < 0.001). The AA genotype and A allele were linked to oral ulcers, the GG genotype and G allele to neurological disease, and the GG genotype and G allele to ocular disease (all P < 0.01). There were no links with genital ulceration, skin lesions, vascular disease or the result of the pathergy test. CONCLUSION: The miR-146a (rs57095329) is associated with Behçet's disease and certain genotypes and alleles with oral ulcers, and with ocular and neurological manifestations.
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Síndrome de Behçet , MicroARNs , Alelos , Síndrome de Behçet/genética , Genotipo , Humanos , MicroARNs/genética , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Background: Systemic Lupus Erythematous (SLE) is a chronic systemic autoimmune disorder whose diagnosis depends on combination of multiple factors. Circulating lncRNAs could serve as diagnostic non-invasive biomarkers for SLE. We hypothesised that serum FAS-AS1 and PVT1 are new biomarkers for SLE that relate to clinical features and laboratory markers. Materials and Method: Measurement of serum FAS-AS1 & PVT1 by qRT-PCR, analysis of the association between two RNAs and the clinical data, activity index and laboratory markers by standard routine methods. Results: There was a significant relative increased serum FAS-AS1 (median (IQR) 2.19 (0.13-8.62) and a significant reduced PVT1 (median (IQR) 0.52 (0.01-7.55) in SLE patients compared to controls (P < 0.0001 for FAS-AS1 and = 0.007 for PVT1). Serum FAS-AS1 and PVT1 were positively correlated (r= 0.37, P = 0.001). Higher FAS-AS1 was significantly linked with nephritis (P = 0.011), positive anti-dsDNA (P= 0.01) and lower serum PVT1 was significantly associated with oral ulcers (P= 0.023), photosensitivity (P= 0.017), and neurological manifestations (P= 0.041). Serum PVT1 negatively correlated with age (r= -0.52, P< 0.0001) and ESR level (r= -0.29, P= 0.011) in SLE patients. No correlation between disease activity and serum FAS-AS1 or PVT1 was detected. Conclusions: Our study provides evidence that serum FAS-AS1 and PVT1 are new biomarkers for SLE.