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Purpose & methods Several single-nucleotide polymorphisms (SNPs) in the promoter region of the TNF-α gene can cause variations in the gene regulatory sites and act as risk factors for some autoimmune disorders as alopecia areata (AA) and vitiligo. This study aimed to detect the serum TNF-α (sTNF) level (by ELISA) and the rs1800629 (by real-time PCR) among AA and vitiligo Egyptian patients and to determine their relation with disease duration and severity. In silico analysis of this SNP to study the molecular regulation of the mutant genotypes was also done. Results In AA patients, no risk was associated with the mutant genotypes vs. the normal genotype, or with A allele vs. G allele. The risk of vitiligo was significantly higher with the G/A and A/A genotypes compared with HCs (p = 0.011). Similarly, a significantly increased risk was noted in patients with A allele vs. G allele (p<0.0001). In AA and vitiligo patients, a significant increase in sTNF-α levels was noted in the mutant G/A genotypes vs. the normal G/G genotype (p<0.0001) and in the A allele vs the G allele (p<0.0001). According to the in silico analysis, this SNP could mainly affect the SP1 transcription factor binding site with subsequent effect on TNF-α expression. Conclusion According to results of the laboratory and the in silico study, the mutant TNF-α (308) genotypes were risk factors that conferred susceptibility to vitiligo among Egyptian patients but had no effect on the susceptibility to AA.

Background: Psoriasis is a chronic skin disorder manifested by recurrent episodes of scaly, red, itchy skin patches that occur within apparently normal skin. Objectives: This study was performed to detect the expression of serum and tissue (lesion and non-lesion) LncRNA MALAT-1 and MiRNA-9 that might be used as biomarkers for psoriasis. Methods: 100 subjects were included in this study, 60 psoriatic patients as well as 40 controls, blood samples were taken from all subjects, 4 mm punch biopsy was taken from lesional and non lesional skin of psoriatic patient and controls. Expression of LncRNA MALAT-1 and miRNNA-9 in Serum and tissues was detected by real time qRT-PCR.Results: our results revealed a statistically significant increase in the expression of MALAT-1 in lesional and non-lesional skin and serum of psoriatic patients than controls. Also there was statistically significant increase in serum MiRNA-9 in patients than controls. Meanwhile, its tissue level was significantly decreased in patients than controls.Conclusion: This study highlights the contribution of LncRNA MALAT-1and miRNA-9 in the pathogenesis of psoriasis. Elevated expression of MALAT-1 in lesional skin of psoriatic patients compared to non-lesional skin is probably an important factor in the development of psoriatic plaques.

Background: vitiligo is a common, acquired, discoloration of the skin, characterized by well circumscribed, ivory or chalky white macules and patches. Researchers suggested that vitiligo may arise from autoimmune (AI), genetic, oxidative stress or neural causes. Zinc (Zn) and copper (Cu) are trace elements that are required in minutely small doses. The unique process of keratinization and melanin formation is enzyme-dependent and therefore could be influenced by trace elements deficiencies or excesses as trace elements are involved in enzymatic activities and immunologic reactions. Aim of work: this study aimed to detect the levels and roles of serum Zn and Cu in the pathogenesis of vitiligo. Patients and methods: our study included 50 vitiligo patients and 50 apparently healthy controls. Age of study groups ranged from 15 to 60 years and both sexes. Serum Zn and Cu levels were measured in each study group. Results: serum Zn levels were statistically significant lower in both the studied groups, but in vitiligo group they were much lower than the control group. Serum Cu levels were statistically insignificant higher in vitiligo group than the control group. Conclusion: there is a relationship between vitiligo and serum Zn. Further studies are needed to obtain better knowledge about effect of the trace elements in vitiligo patients.

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