PTPN22 gene polymorphism as a genetic risk factor for primary immune thrombocytopenia in Egyptian children.
Expert Rev Hematol
; 14(9): 877-881, 2021 09.
Article
em En
| MEDLINE
| ID: mdl-33064968
ABSTRACT
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 (PTPN22) plays an important role in regulation of signal transduction through the T-cell receptors. PTPN22 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 PTPN22(SNP) 1858 C > T in childhood ITP.METHODS:
This case-control study was designed for assessing the contribution of PTPN22 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. PTPN22 1858 C/T SNP gene polymorphism was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).RESULTS:
Frequency of PTPN22 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, and P = 0.02).CONCLUSION:
PTPN22 gene polymorphism may play a pivotal role in genetic predisposition to ITP and disease progress in Egyptian children.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Púrpura Trombocitopênica Idiopática
/
Proteína Tirosina Fosfatase não Receptora Tipo 22
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Humans
País/Região como assunto:
Africa
Idioma:
En
Revista:
Expert Rev Hematol
Ano de publicação:
2021
Tipo de documento:
Article