High serum leptin and adiponectin levels as biomarkers of disease progression in Egyptian patients with active systemic lupus erythematosus.

Objectives: Leptin and adiponectin are adipose-derived immune modulators (adipokines) that may contribute to SLE pathology and symptoms. This study aimed to evaluate the associations of serum adiponectin and leptin with clinical manifestations and disease activity in SLE patients. Methods: This is a case control study, where 70 SLE patients and 50 age- and sex-matched healthy controls were enrolled from the Rheumatology and Rehabilitation Department of Beni-Suef University Hospital from June 2020 till April 2022. The SLE disease activity index (SLEDAI) and Systemic Lupus International Collaborative clinics/America Collage of Rheumatology damage index were used to assess disease severity. Laboratory parameters including erythrocyte sedimentation rate (ESR) and serum concentrations of antinuclear antibody (ANA), anti-double stranded DNA, complement 3 and 4, lipids, and C-reactive protein (CRP) were measured and compared between SLE and control groups. Serum adiponectin and leptin were also measured by enzyme-linked immunosorbent assays (ELISA). Results: Compared to healthy controls, SLE patients exhibited significantly greater serum leptin (21.1 vs 3.9 ng/mL, p < 0.001) and adiponectin (18.1 vs 4.8 ng/mL, p < 0.001), and both values were positively correlated with SLEDAI scores (p = 0.048 and 0.042). Higher serum leptin was significantly associated with lupus nephritis (LN) (p = 0.048) as well as greater body mass index (p = 0.010), ESR (p = 0.002), serum CRP (p = 0.003), total cholesterol (p = 0.013), and uric acid (p = 0.002), while higher adiponectin was significantly associated with LN (p = 0.046). Conclusion: Serum leptin and adiponectin levels are associated with the clinical and pathological manifestations of SLE, suggesting direct involvement in disease progression and utility as diagnostic biomarkers and therapeutic targets.

Circulating miR-146a -5p in Egyptian patients with Rheumatoid Arthritis.

We indented to evaluate of the role miRNA-146a-5p expression level as a possible biomarker associated with the incidence of rheumatoid arthritis and the detection of its relevance with different disease parameters. The study included 60 clinically diagnosed RA patients fulfilling 2010 American College of Rheumatology / European League Against Rheumatism (ACR/EULAR) classification criteria for Rheumatoid Arthritis and 45 age and sex matched control subjects. Disease activity was assessed by Disease Activity Score 28 (DAS28). The expression levels of miR-146a in whole blood was measured using reverse transcriptase quantitative real time polymerase chain reaction (RT-PCR). There median expression level of miRNA-146a-5p was significantly higher in RA patients compared with the control group (P = 0.036). MiR-146a expression level was positively correlated with individual activity markers, including erythrocyte sedimentation rate (ESR) (P = 0.04), visual analogue scale (VAS) (P = 0.047) and Modified Health Assessment Questionnaire (MHAQ) (P = 0.050). A lower expression level of miRNA-146a-5p was detected in RA patients on antimalarial drugs as compared to patients whose treatment protocol did not include antimalarial drugs (P = 0.016). In conclusion, data of this study suggested a possible association between miRNA 146a-5p expression level and the incidence of RA in Egyptian patients.

Genetic association of interleukin 18 (-607C/A, rs1946518) single nucleotide polymorphism with asthmatic children, disease severity and total IgE serum level.

INTRODUCTION: Bronchial asthma is a chronic inflammatory disease. Interleukin 18 (IL-18) single nucleotide polymorphisms (SNPs) can influence IL-18 production and activity. IL-18-607C/A and -137 C/G are two of the commonly studied SNPs of IL-18 due to their role in the etiopathogenesis of allergic diseases. AIM OF THE STUDY: The case control study was conducted to investigate the genetic association between IL-18-607C/A polymorphism and pediatric asthma. Also attempts were made to evaluate the prognostic effect of -607C/A SNP with disease severity and total serum IgE. MATERIAL AND METHODS: The case control study was conducted on 60 asthmatic children and 40 healthy subjects; aged 2 to 12 years. PCR-RFLP was used to detect IL-18-607C/A SNP and total serum IgE level was detected using ELISA technique. RESULTS: Regarding IL-18-607C/A SNP, the frequency of the A allele and CA genotype was significantly higher in asthmatic children compared to healthy control subjects (p < 0.001). Further on, asthmatic children carrying the AA/AC genotype of -607C/A SNP were associated with an increased risk of occurrence of asthma (OR = 6.417; CI = 2.432-17.289). IgE was higher in asthmatic patients carrying the heterozygous CA genotype compared to patients carrying the AA and CC genotypes (p = 0.054). CONCLUSION: The frequency of the heterozygous CA genotype and A allele in IL-18-607C/A SNP was higher in asthmatic children. There is no association between the severity of asthma and -607C/A SNP. Total IgE was higher in patients carrying the CA genotypes compared to patients carrying the AA and CC genotypes, respectively.

Tumour necrosis factor gene polymorphisms in Egyptian patients with rheumatoid arthritis and their relation to disease activity and severity.

AIM OF THE STUDY: The present case control study was conducted to assess the association of LTA 252 A>G, TNF-α 308 G>A, and TNF-α 1031 T>C gene polymorphisms with rheumatoid arthritis (RA), and their involvement in disease activity and severity. MATERIAL AND METHODS: A total of 70 Egyptians, including 35 RA patients and 35 healthy control individuals, were included in the study. The RA patients comprised 34 females and one male. Cases with RA were diagnosed by a rheumatologist and fulfilled the 2010 ACR/EULAR criteria. Modified disease activity score (DAS28) was used to assess disease activity. Van Der Heijde-modified Sharp score (vdHSS) was used to assess radiological changes for assessment of disease severity. PCR-RFLP was used to detect the association of LTA 252 A>G, TNF-α 308 G>A, and TNF-α 1031 T>C gene polymorphisms with RA. RESULTS: TNF-α 308 G allele and TNF-α 308 GG genotype were significantly higher in RA patients compared to healthy control subjects (p = 0.04 and p = 0.001, respectively). TNF-α 308 G allele and GG genotype were significantly higher in the RA non-remission group compared to the remission group (p = 0.008, p < 0.001). Patients with the TNF-α 308 AG genotype had higher mean of Sharp score compared to the patients with the GG and AA genotypes (p = 0.007). There was no significant association between LTA 252 A>G and TNF-α 1031 T>C gene polymorphisms and RA. CONCLUSIONS: Our results suggest that TNF-α 308 G/A gene polymorphism is genetically associated with RA and involved in disease activity and severity in Egyptian patients.

Genetic influence of growth and differentiation factor 5 gene polymorphism (+104T/C) on the development of knee osteoarthritis and its association with disease severity.

OBJECTIVE: The growth and differentiation factor 5 (GDF5) gene is recognized for its role in the development, repair, and maintenance of cartilage and bone. The present case-control study was conducted to detect the genetic association between GDF5 (+104T/C) single-nucleotide polymorphism (SNP) and primary knee osteoarthritis (KOA), as well as the possible association of SNP with the severity of KOA. MATERIAL AND METHODS: The study included 50 patients with primary KOA and 50 healthy control subjects. The severity of the disease was assessed by using the Kellgren-Laurence (K-L) grading system and aided by the Western Ontario & McMaster Universities Osteoarthritis Index (WOMAC) score, visual analog scale (VAS) score, and tenderness score. The genetic association of the SNP with primary KOA was assessed by means of the TaqMan® allelic discrimination technique. RESULTS: The radiological assessment of patients according to the K-L grading system revealed a statistically significant association between the wild-type (TT) genotype and disease severity in both the right and left knees (p=0.049). The frequency distribution of patients with VAS score ≤6 was significantly higher in patients carrying the TT genotype (p=0.005) as compared to the CT and CC genotypes. The mean WOMAC score was significantly higher in patients carrying the TT genotype as compared to patients carrying the CC and CT genotypes (p=0.017). No statistically significant association was detected on comparing the frequency distribution of allele and genotype frequencies of the SNP in patients and healthy controls. CONCLUSION: The results of the current study revealed a possible genetic association between GDF5 (+104T/C) SNP and the severity of KOA, which might be of benefit for the detection of patients with a high risk for disease progression. The present study did not detect an association between the SNP and development of KOA.