Abstract association between genetic variants of single nucleotide polymorphisms of the Discoidin Domain Receptor Tyrosine Kinase 1 (DDR1) a/c (rs 2267641) and Granzyme B (GZMB) C/T (RS8192917) genes in vitiligo

Vitiligo manifests as advanced loss of melanocytes with reduced cellular adhesion. Discoidin Domain Receptor Tyrosine kinase1 (DDR1) is a main element affecting cellular adhesiveness associated with vitiligo. Granzyme B (GZMB) has significant role in cytotoxic T-cell induced apoptosis. This study aimed to evaluate the association between genetic variants of single nucleotide polymorphisms of DDR1 A/C (rs 2267641) and GZMB C/T (rs8192917) and the risk of developing vitiligo. The genotypes were investigated using allele discrimination assay comparing 120 patients having non-segmental vitiligo and 100 age and gender matched healthy individuals. We detected a significant prevalence of the CC genotype and C allele of both DDR1 and GZMB polymorphisms in vitiligo patients with early onset and progressive course compared to controls. Our results concluded that DDR1 A/C (rs 2267641) and GZMB C/T (rs8192917) polymorphisms may be risk factors for vitiligo

Tumor necrosis factor-α gene promoter −308 and −238 polymorphisms and its serum level in psoriasis

Background: Psoriasis is a chronic, immune-mediated, inflammatory skin disease affecting genetically predisposed individuals and requiring long-term treatment. The etiology of psoriasis is not fully understood. This article aimed to determine association between genetic polymorphisms in tumor necrosis factor-α (TNF -α) promoter −308 (rs1800629) and −238 (rs 361,525) and its serum level in psoriasis patients. Methods: The study was conducted on 70 patients with psoriasis and 70 age and sex-matched, healthy individuals. All patients were subjected to history taking and complete medical examination. The polymorphisms of TNF -α promoter gene −308 (rs1800629) and −238 (rs 361,525) were detected by real time PCR and Serum levels of TNF -α were measured by ELISA technique. Results: AG polymorphism and A allele of TNF-α −238 G/A (rs 361,525) were significantly more in patients than controls, whereas AG polymorphism and A allele of TNF-α −308 G/A (rs1800629) were significantly more in controls than patients. There were significant high levels of TNF-α in serum of patients in comparison to controls. Conclusions: The AG polymorphism and A allele of TNF-α −238G/A (rs 361,525) may act as a risk factor for occurrence of psoriasis, whereas AG polymorphism and A allele of TNF-α −308G/A (rs1800629) may have protective role. There is pivotal role of TNF-α as a pro-inflammatory mediator in pathogenesis of psoriasis

Chemokine receptor 2 (CCR2) G190A polymorphism in chronic renal failure patients requiring hemodialysis

End-stage renal disease is associated with the inflammatory state characterized by infiltrating macrophages/lymphocytes, a major source of chemokines. The aim of this study was to determine the association of CCR2 G190A polymorphism in patients with chronic renal failure (CRF) requiring hemodialysis. Seventy CRF patients and thirty healthy controls were enrolled in the current study; PCR-RFLP technique was used to assess the gene frequencies of CCR2 G190A. The results of the present study showed that there was a significant difference in the genotype and allele frequency distribution of CCR2 G190A in CRF patients and control subjects. A significant association was found between CCR2 G190A and CRF risk, especially, the AA genotype (OR= 2.5, 95% CI=0.26-23.66) and A allele (OR=2.9, 95% CI=1.14-7.3). The polymorphism was significantly associated with the presence of diabetes mellitus. From this study, it could be concluded that, a significant association was found between the AA genotype of CCR2 G190A polymorphism and CRF. Other chemokine polymorphisms in renal pathologies have to be further investigated with larger population based studies.Key words: CCR2, polymorphism, PCR-RFLP, CRF

Integrin beta 4 MRNA expression levels in bronchial asthma patients

Integrin beta 4 (ITGβ4) is one of the integrin families that is engaged in the maintenance of the integrity of airway epithelial cells. The aim of this work was to evaluate the relationship between ITGβ4 mRNA expression level and asthma susceptibility; and to analyze the relevance of atopic asthma with the alteration of ITGβ4mRNA expression level.Seventy five asthmatic patients and thirty age and gender matched healthy controls were enrolled in this study. Serum total IgE was measured by ELISA and mRNA expression of ITGβ4 was assessed by reverse transcriptase PCR (RT-PCR) using real time PCR.. ITGβ4 mRNA expression was significantly down regulated with increased serum total IgE in patients with asthma compared to controls. Moreover, ITGβ4 expression was significantly reduced with increased total IgE in atopic asthmatics compared to non-atopic asthmatics.From this study, it could be concluded thatdown-regulation of ITGβ4 expression is associated with asthma susceptibility mainly in atopic cases irrespective of the degree of severity.Key words: Integrin β4, expression, asthma, atopy and RT- PCR

Role of annexin A1 in early diagnosis of lung cancer

Background: The prevalence of lung cancer has shown an increase over the last few years which cause both health and economic burden. The biopsy is the gold standard tool for disease diagnosis, but it is usually not accepted by the patients due to its invasive nature. The use of non-invasive biomarkers is now attaining a great interest in diagnosis. Aim of the work: Assess the role of Annexin A1 in bronchoalveolar lavage and serum in the early diagnosis of lung cancer. Patients and methods: This study included 39 patients into two groups; group A (cases with lung cancer) and group B (cases with non-malignant lung lesions). All subjects were submitted to history taking and thorough full physical examination and laboratory analysis. Bronchoalveolar lavage (BAL) was performed in the cases within the two groups. Both serum and BAL levels of annexin A1 were assed in all cases. Results: In the current study, the level of annexin A1 in the serum and BAL were statistically significantly higher in the malignant group as compared with the non-malignant group (P 0.001).&nbsp

miRNA-148a and miRNA-30c expressions as potential biomarkers in breast cancer patients

Background: Breast cancer is an extensively identified malignant tumor and is a prime cause of cancer mortalities in females. It has been shown that alteration of miRNAs expression (up or down regulation) can affect the initiation and progression of many malignancies. We aimed to evaluate the role of circulating miRNA-148a and miRNA-30c in female patients with breast cancer and estimate their usage as potential biomarkers in the diagnosis, prognosis and survival of breast cancer. Methods: This study included 75 breast cancer female patients.They were compared with 55 apparently healthy female subjects. miRNAs expression analysis was assessed via real-time PCR. Results: To discriminate breast cancer patients from controls, miR-30c showed the best performance at a cut off value of ≤20.6 (AUC = 0.998, 97.33% sensitivity, 96.36% specificity, p 21.3), and finally CEA (AUC = 0.751, 70.67% sensitivity, 63.64% specificity, p 2.5). Conclusion: miRNA-148a and miRNA-30c expressions were down regulated in female patients with breast cancer and might be considered as potential blood biomarkers. Both also might have rule in disease treatment and selection of therapeutic targets. Future studies are needed to improve their role in predicting response to treatment and prognosis