Tumor necrosis factor receptor II and PTPN22 genes polymorphisms and the risk of systemic lupus erythematosus in Egyptian children

• Published in: Lupus 2021-08, Vol.30 (9), p.1449-1458
• Main Authors: Eid, Riham, Hammad, Ayman, Abdelsalam, Maha, Fathy, Aya Ahmed, Abd-El Ghafaar, Dena M, Elmarghany, Eman B, El-Hanafy, Aya A, Mostafa, Nora, Niazey, Nermeen A, Korkor, Mai S, Hamdy, Nashwa
• Format: Article
• Language: English
• Subjects: Adolescent; Alleles; Apoptosis; Case-Control Studies; Cell surface; Child; Children; Egypt - epidemiology; Female; Gene frequency; Gene polymorphism; Genes; Genetic Predisposition to Disease; Genotype & phenotype; Humans; Hypothyroidism; Lupus; Lupus Erythematosus, Systemic - diagnosis; Lupus Erythematosus, Systemic - epidemiology; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - immunology; Lymphocytes T; Male; Necrosis; Patients; Phosphatase; Polymerase chain reaction; Polymorphism; Polymorphism, Single Nucleotide; Protein Tyrosine Phosphatase, Non-Receptor Type 22 - genetics; Protein Tyrosine Phosphatase, Non-Receptor Type 22 - immunology; Protein-tyrosine-phosphatase; Receptors, Tumor Necrosis Factor, Type II - genetics; Receptors, Tumor Necrosis Factor, Type II - immunology; Restriction fragment length polymorphism; Risk; Risk factors; Single-nucleotide polymorphism; Systemic lupus erythematosus; T-Lymphocytes - immunology; Thyroiditis; Tumor necrosis factor; Tumor necrosis factor receptors; Tumor necrosis factor-TNF
• ISSN: 0961-2033; 1477-0962
• DOI: 10.1177/09612033211020359

Background Many genes have been implicated in the pathogenesis of systemic lupus erythematosus (SLE). Tumor necrosis factor (TNF) is a potent cytokine stimulator acting through 2 cell surface receptors (TNFR I and II). TNFRII gene which controls expression of these receptors has been linked to SLE susceptibility through promoting apoptosis. Also; Protein tyrosine phosphatase non receptor 22 (PTPN22) gene enhances intrinsic phosphatase activity of T lymphocytes leading to their dysregulation and stimulates autoimmune process of lupus and its rs2476601 has been linked to susceptibility to thyroiditis in SLE patients in few studies. Objectives (i) to investigate the correlation between 2 SNPs of TNFR II and PTPN22 genes and SLE susceptibility in a cohort of Egyptian children compared to controls (ii) and to investigate their possible association with different clinical presentations of the disease in children. Subjects and methods Typing of TNFR II rs1061622 and PTPN22 rs2476601 SNPs were done using polymerase chain reaction-restriction fragment length polymorphism for 74 children with SLE and 100 matched healthy controls. Results Children with SLE had more frequent G allele and GG genotype of TNFR II rs1061622 (p