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PTPN22 gene polymorphism as a genetic risk factor for primary immune thrombocytopenia in Egyptian children by hesham, Mervat; Hassan, Tamer; Fawzy, Amal; Mohamed, Noura; Alhejny, Ebtihaj; Fathy, Manar; EL Gebaly, Sherief; Zakaria, Marwa is a Medicine article available to read on EtoBox.

What is PTPN22 gene polymorphism as a genetic risk factor for primary immune thrombocytopenia in Egyptian children about?

## Objectives: Several genetic and non-genetic risk factors are implicated in the etiology and pathogenesis of primary immune thrombocytopenia (itp). protein tyrosine phosphatase non-receptor 22 gene () plays an important role in regulation of signal transduction through the t-cell receptors. 1858 c > t single nucleotide polymorphism was reported to be associated with increased risk of autoimmune diseases. there are very few studies investigating the role of (snp) 1858 c > t in childhood itp. ## Methods: This case-control study was designed for assessing the contribution of 1858 c > t polymorphism to the risk of itp in egyptian children. eighty children with newly diagnosed itp were recruited from pediatric hematology out-patient clinic. also, eighty age and sex-matched healthy children were enrolled as a control group. 1858 c/t snp gene polymorphism was performed using polymerase chain reaction-restriction fragment length polymorphism (pcr-rflp). ## Results: Frequency of 1858 c/t genotypes ct, cc, and tt were 32.5,55, and 12.5% in patients versus 10, 90, and 0% in controls (p < 0.05).tt genotype was significantly associated with higher risk of itp (or = 17.8(0.94-333.35), 95% ci,

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Author

hesham, Mervat; Hassan, Tamer; Fawzy, Amal; Mohamed, Noura; Alhejny, Ebtihaj; Fathy, Manar; EL Gebaly, Sherief; Zakaria, Marwa

Publisher

Expert Reviews; Informa UK (Taylor & Francis); Taylor & Francis; Informa UK Limited (ISSN 1747-4086)

Published

2020

Language

EN

Field

Medicine (Health Sciences)