Background Biomarkers that enhance overall diagnosis and prognosis of systemic lupus erythematosus (SLE) have a growing need to be recognized. The use of long non-coding ribonucleic acids (lncRNAs) as biomarkers in this regard is still largely unexplored. This study aimed to evaluate lncRNA [metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) and growth arrest-specific 5 (GAS5)] expression in SLE patients with/without nephritis. Their relation to disease activity/chronicity changes has been identified. A total of 40 SLE patients and 40 healthy controls were tested using real-time quantitative polymerase chain reaction (PCR) for expression levels of MALAT1 and GAS5. Results MALAT1 expression was aberrantly upregulated, while GAS5 was downregulated in patients with SLE versus controls. GAS5 relative expression was significantly downregulated in lupus nephritis (LN) patients compared to non-lupus nephritis (NN) patients. GAS5 was also correlated with glomerulosclerosis, interstitial fibrosis, tubular atrophy, and hypertension. Conclusion The lncRNA (GAS5 and MALAT1) may serve as diagnostic biomarkers for SLE. Moreover, GAS5 may distinguish SLE LN patients from NN patients and may predict renal fibrosis in LN patients.
Background: Acne vulgaris (AV), common dermatopathology, has a complex etiopathogenesis with a genetic background. The Survivin gene, which encodes an inhibitor of apoptosis protein, has been linked to some dermatologic disorders. The relationship between Survivin gene polymorphisms and AV has not yet been explored. Objective: To study the effect of survivin gene polymorphism rs9904341 and survivin serum concentration on the development of AV in Egyptian patients. Methods: Serum survivin was estimated using an enzyme-linked immunosorbent assay. Real-time quantitative PCR using allelic discrimination probes was conducted to investigate the rs9904341 polymorphism in the survivin gene in 118 AV patients and 120 healthy controls. Results: The serum survivin levels were significantly higher in AV patients than controls. Also, it was positively correlated with acne severity. The C allele was significantly more observed in acne patients compared to healthy controls. Patients with the C allele had 1.6 times higher odds of exhibiting acne than those with the G allele. The C/C genotype was significantly more observed in cases versus controls. Patients with the C/C genotype had 2.8 times higher odds of exhibiting acne as compared to those with the G/G genotype. However, no significant association was found between genotype distribution and grades of acne severity. Conclusion: Results showed significant associations between survivin gene rs9904341 genotypes and AV susceptibility, although it was not related to acne severity and could not be used as a marker of disease activity. Abbreviations: AV: Acne vulgaris, GAGS: Global Acne Rating System, SNPs: Single nucleotide polymorphisms.
Background Idiopathic pulmonary fibrosis (IPF) represents a chronic disease with a progressive course. It is characterized by excessive lung scarring that ultimately contributes to irreversible lung function reduction. Interestingly, a type of long non-coding RNA termed as telomeric repeat-containing RNA (TERRA) is linked to fibrosis pathophysiology, including IPF. In this study, the expression profile of TERRA was investigated in IPF patients on radiological diagnosis [unusual interstitial pattern (UIP) in high-resolution computed tomography (HRCT)] to evaluate whether it could be employed as a reliable diagnostic biomarker. Results TERRA expression level was significantly higher in IPF patients over healthy controls. The expression level was significantly inversely correlated with the percentage of forced vital capacity predicted (FVC% predicted). By contrast, it was significantly directly correlated with HRCT reticular extent score. Conclusion TERRA expression is an essential biomarker in peripheral blood of IPF patients, providing a valuable non-invasive tool for IPF diagnosis. Moreover, TERRA expression is strongly correlated with UIP in HRCT reticular extent score.
Objective The aim of this study was to evaluate the effects of the high mobility group box protein 1 (HMGB1) serum and urinary levels and gene polymorphisms on systemic lupus erythematosus (SLE) development and investigate their link to lupus nephritis (LN). Methods We enrolled 120 Egyptian SLE patients and 120 healthy controls. Thorough medical and clinical evaluation were carried out, and SLE disease activity index (SLEDAI) was assessed. Lupus patients were divided into two groups according to the presence of LN. Measurement of HMGB1 serum and urinary levels was done using ELISA and genotyping for HMGB1 ( rs1045411) was performed. Results There were statistically significantly higher HMGB1 serum and urinary levels in SLE patients ( p < 0.001). There was a marginally significant association between lupus and alleles ( p = 0.059, φ = −0.086). ‘C’ allele was marginally significant risk allele for SLE. After classifying SLE patients based on the presence or absence of LN, there was no significant difference as regard sex ( p = 0.387), age ( p = 0.208) and disease duration ( p = 0.094).However, there was a significant difference between the 2 groups in regard to the frequency of musculoskeletal manifestations ( p = 0.035), SLEDAI score ( p < 0.001), both serum ( p < 0.001) and urinary HMGB1 levels ( p < 0.001) in addition to the frequency of HMGB1 genotypes ( p = 0.003). Lupus patients with C/T-T/T HMGB1 genotypes had 3.5-times higher odds to exhibit LN. Conclusions Serum and urine HMGB1 measurements are helpful in the diagnosis of SLE and the prediction of LN. There is a link between HMGB1 gene variations and the risk of SLE, with evidence that the C/T-T/T HMGB1 genotype is linked to a significantly greater risk of LN in the Egyptian population.
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