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Subject Area

Clinical Oncology

Article Type

Original Study

Abstract

Objectives To clarify the association of tumor necrosis factor-alpha-induced protein 3 (TNFAIP3) rs5029939 polymorphism with systemic lupus erythematosus (SLE) susceptibility and pathogenesis in the Egyptian population. Background TNFAIP3 is a single nucleotide polymorphisms coding for the ubiquitin-modifying enzyme, associated with autoimmune diseases like SLE. Patients and methods A case–control study included 80 patients with SLE as well as 80 controls. Clinical assessment, renal biopsy, and full laboratory investigations were done. DNA samples were tested for TNFAIP3 using PCR-restriction fragment length polymorphism assay. Results TNFAIP3 (rs5029939 C > G) genotype distribution showed no statistically significant difference between patients with SLE and controls (P = 0.226); odds ratio (95% confidence interval) of C/C, C/G, and G/G genotypes was 0.89 (0.68–1.04), 1.38 (0.92–1.82), and 1.02 (0.71–1.1), respectively. The most frequent allele in the two groups was C allele in group I and group II (85 and 90%, respectively). Conclusions The studied sample of the Egyptian population carrying TNFAIP3 polymorphism has no susceptibility to developing SLE. Further studies are still needed to verify these results, including a larger number of patients to illuminate the potential role of the TNFAIP3 (rs5029939 C > G) gene polymorphism in SLE pathogenesis in Egypt. Further studies are recommended to detect other polymorphisms in the TNFAIP3 gene like rs2230926 in the Egyptian population, investigating the specific ethnic patients' contribution.

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