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

Autor:	Eman B Elmarghany, Riham Eid, Ayman Hammad, Maha Abdelsalam, Nashwa Hamdy, Nermeen A Niazey, Aya Ahmed Fathy, Mai S Korkor, Nora Mostafa, Dena M Abd-El Ghafaar, Aya A El-Hanafy
Rok vydání:	2021
Předmět:	0301 basic medicine Male Risk Adolescent medicine.medical_treatment T-Lymphocytes Cell Polymorphism Single Nucleotide Pathogenesis PTPN22 03 medical and health sciences 0302 clinical medicine Rheumatology immune system diseases medicine Humans Lupus Erythematosus Systemic Receptors Tumor Necrosis Factor Type II Genetic Predisposition to Disease skin and connective tissue diseases Child Gene 030203 arthritis & rheumatology business.industry Protein Tyrosine Phosphatase Non-Receptor Type 22 030104 developmental biology medicine.anatomical_structure Cytokine Case-Control Studies Cancer research Tumor necrosis factor alpha Egypt Female business Tumor necrosis factor receptor
Zdroj:	Lupus. 30(9)
ISSN:	1477-0962
Popis:	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 Conclusion The G allele and GG genotype of TNFR II rs1061622 and T allele and TT genotype of PTPN22 rs2476601 genes polymorphism can be considered as risk factors for the development of SLE. The presence of the T allele of PTPN22 rs2476601 may increase the risk of concomitant thyroiditis in Egyptian children with SLE but further studies are required to confirm this finding as thyroiditis was reported only in few cases in this study.
Databáze:	OpenAIRE
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