1.Genetic and epigenetic insights into systemic lupus erythematosus: linking long non-coding RNA growth arrestspecific transcript 5 and interferon signature
Gehad Gamal MAGHRABY ; Manal Abdel-Moneim EL-MENYAWI ; Hanan A. Abdel REHIEM ; Olfat Gamil SHAKER ; Mina M. HABIB ; Rasmia ELGOHARY
Journal of Rheumatic Diseases 2026;33(1):55-64
Objective:
Interferon (IFN) signaling, and excessive apoptosis have a well-established role in systemic lupus erythematosus (SLE) pathogenesis. Long non-coding RNA (lncRNA) growth arrest-specific transcript 5 (GAS5) has been linked to excessive apoptosis and upregulation of IFN genes. We aimed to investigate the expression of IFN-stimulated genes in SLE patients compared to healthy controls, and to assess their association with lncRNA GAS5 and clinical characteristics of SLE.
Methods:
The study included 30 SLE patients and 20 controls. IFN-stimulatory genes (interferon-induced protein 44-like [IFI44L] gene, MX dynamin like GTPase 1 [MX1], IFN-induced protein with tetratricopeptide repeats 1 [IFIT1]) and GAS5 expression levels in plasma were estimated by quantitative real-time polymerase chain reaction. IFN signature score was calculated.
Results:
IFIT1 gene expression and IFN signature score were significantly higher in SLE patients compared to controls (p<0.001, p<0.001, respectively). LncRNA GAS5 positively correlated with IFIT1 expression (p<0.001) and IFN signature score (p=0.005).No significant associations were found between IFN gene expression or IFN signature score and disease activity (Systemic Lupus Erythematosus Disease Activity Index 2000, SLEDAI-2K) or organ damage (Systemic Lupus International Collaborating Clinics/ American College of Rheumatology Damage Index, SDI). IFI44L expression was significantly higher in SLE patients with secondary antiphospholipid syndrome (p=0.040).
Conclusion
IFN signature is a potential biomarker for SLE diagnosis, but it can’t be relied on for the assessment of activity or damage. The correlation between lncRNA GAS5 and IFN-related gene expression suggests a possible role for GAS5 in the IFN pathway in SLE.
2.Human papillomavirus (HPV) in Egyptian females: study by cytology, histopathology, colposcopy and molecular diagnosis of high risk types
Mona Abdelbadiaa ; Olfat G Shaker ; Hala N Hosni ; Sara E Khalifa ; Ahmed F Shazly
The Malaysian Journal of Pathology 2016;38(3):257-266
Objectives: In Northern Africa, the region Egypt belongs to, about 10.7% of women are estimated to
harbour cervical human papillomavirus (HPV) infection and 78.4% of invasive cancers are attributed to
HPVs 16 or 18. We aimed at comparing HPV detection by ISH-PCR tissue with other conventional
available cheaper techniques, finding which of them can be relied upon in a developing country like
Egypt for HPV detection. Methods: Sixty patients were included. For them colposcopy, PAP smear,
histopathology and detection of HPV using ISH PCR tissue and PCR swab were achieved. Results:
PCR-ISH tissue was positive in 53.33%, 46.6% were negative. Pap smear was negative in 26 cases
(43.33%) and 43 cases (56.67%) were positive. LSIL with perinuclear halo represented nearly half of
the positive cases (16/34; 47.05%), 10 cases were diagnosed as HSIL, 4 cases as ASCUS and 4 as AGC.
Histopathology was negative in 12 (20%) cases and 48 (80%) cases were positive. CIN I and CIN I+
koliocytosis represented half of the cases (30/60) and more than half of positive cases (30/48; 62.5%).
Comparing the results of pap smear, histopathology, colposcopy and PCR swab with ISH PCR tissue,
highly significant results were seen with sensitivity of 87.5%, 100%, 62.5% and 56.2% respectively but
the specificity were 78.6%, 42.9%, 28.6% and 100% respectively. Conclusion: Conventional cytology
and histopathology were sensitive tests for detection of HPV. This may help for early detection of
cancer cervix in a developing country like Egypt. PCR swab showed the highest specificity and the
lowest sensitivity.
3.A Polymorphism in the Microsomal Triglyceride Transfer Protein Can Predict the Response to Antiviral Therapy in Egyptian Patients with Chronic Hepatitis C Virus Genotype 4 Infection.
Yasmin SAAD ; Olfat SHAKER ; Yasser NASSAR ; Lama AHMAD ; Mohamed SAID ; Gamal ESMAT
Gut and Liver 2014;8(6):655-661
BACKGROUND/AIMS: A polymorphism in the microsomal triglyceride transfer protein (MTP) is associated with hepatic fibrosis, and carriers showed higher levels of steatosis, higher levels of hepatitis C virus (HCV) RNA and advanced fibrosis. The aim of this study was to study MTP expression pattern in HCV patients and impact of the MTP polymorphism on the response to antiviral therapy. METHODS: One hundred consecutive naive HCV genotype 4 patients were recruited to receive antiviral therapy, and 40 control subjects were also recruited. Demographic, laboratory, and histopathology data were collected. DNA was isolated, and the samples were subjected to polymerase chain reaction analysis and genotyping for MTP by restriction fragment length polymorphism analysis. RESULTS: Patients and controls were age- and sex-matched (male/female, 56/44, age, 39.2+/-7.8 years for patients with HCV; male/female, 18/22, age, 38.1+/-8.1 years for controls). MTP single nucleotide polymorphisms (SNPs) (GG, GT, TT) and alleles (G, T) in the patients versus the controls were 70%, 21%, 9% & 80.5%, 19.5% versus 10%, 87.5%, 2.5% & 53.8%, 46.3%, respectively (p=0.0001). The sustained viral response (SVR) of the patients was 60%. SNPs in MTP genotypes (GG, GT, and TT) and alleles (G and T) in the responders and nonresponders were 71.7%, 25%, 3.3% & 84.2%, 15.8% versus 67.5%, 15%, 17.5% & 75%, 25% (p=0.038 and p=0.109, respectively). A multivariate analysis showed that the GT genotype was an independent predictor of SVR (area under the curve 90% and p=0.0001). CONCLUSIONS: MTP could be a new predictor for SVR to antiviral therapy in patients with HCV genotype 4 infection.
Adult
;
Antiviral Agents/*therapeutic use
;
Carrier Proteins/*genetics
;
Case-Control Studies
;
Egypt
;
Female
;
Genotype
;
Hepacivirus/genetics
;
Hepatitis C, Chronic/*drug therapy/genetics
;
Humans
;
Male
;
Middle Aged
;
Polymorphism, Restriction Fragment Length
;
Polymorphism, Single Nucleotide
;
RNA, Viral/blood
;
Treatment Outcome
;
Viral Load

Result Analysis
Print
Save
E-mail