الفهرس 
Association of protein tyrosine phosphatase N22 (1858C/T) polymorphism with systemic lupus erythematosus in Egyptian children
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Abstract
Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease, characterized by the production of multiple autoantibodies, complement activation, and immune-complex deposition, resulting in tissue and organ damage. To assess the frequency and possible association of protein tyrosine phosphatase N22 c.C1858T SNP polymorphism with SLE in Egyptian children. Seventy five SLE children patients and Seventy five healthy subjects were tested for PTPN22 (C1858T) genotypes by TaqMan real time PCR, and routine laboratory data (CBC, urea, creatinine) were done. In this study, there was significant difference in PTPN22 rs2476601p.R620W (c.C1858T) genotypes and alleles frequency among cases and the control group. The frequency of CT genotype was higher in SLE cases 5/75 (6.7%) as compared to the control group 0/75 (0.0%) which is statistical significant (P=0.023).The TT genotype was absent in both cases and the control group. Regarding the risky mutant T allele frequency, it was found that T allele frequency was significantly increased in cases 5/150 (3.3%) than the control group 0/150 (0%) (p=0.024). Regarding clinical manifestations, it was found that 4/5 (80%) of patients with CT genotype had renal affection and 20/70(28.57%) with CC genotype had renal affection which is statistically significant (P=0.017), but there was no significant difference between PTPN22 CC and CT genotypes regarding other clinical manifestations