RESUMEN
OBJECTIVE: Hepatocellular carcinoma (HCC) is the most common primary liver malignancy in Egypt. Genetic and environmental factors play a role in its development. This study explored the association between the long non-coding RNA (lncRNA) MEG3 rs7158663 polymorphism, MEG3 expression, and the risk of HCC and other clinicopathologic characteristics in an Egyptian population. PATIENTS AND METHODS: This case-control study included 114 patients with HCC and 110 healthy controls. TaqMan Real-time PCR was used to analyze lncRNA MEG3 rs7158663. Serum MEG3 expression levels were measured using RT-PCR. RESULTS: The AA, GA+AA, and A alleles were associated with increased risk for HCC (adjusted odds ratio (OR) 11.84%, 95% CI 4.07-34.45, p < 0.0001; adjusted OR 3.18, 95% CI 1.79-5.67, p < 0.0001; and adjusted OR 2.87, 95% CI 1.91-4.34, p < 0.0001, respectively). The mutant genotype and allele were linked to an increased risk in male patients and patients ≥ 50 years old. MEG3 serum expression level was downregulated in HCC patients. The rs7158663 G > A polymorphism and downregulated MEG3 were significantly associated with larger tumor size and advanced disease stage. CONCLUSIONS: MEG3 rs7158663 single nucleotide polymorphisms and downregulated lncRNA MEG3 were associated with HCC risk and may represent diagnostic and bad prognostic factors for HCC patients.
Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , ARN Largo no Codificante , Carcinoma Hepatocelular/genética , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Humanos , Neoplasias Hepáticas/genética , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , ARN Largo no Codificante/genéticaRESUMEN
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.
Asunto(s)
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.