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Egyptian Journal of Medical Human Genetics

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Study of the role of IL-17F gene polymorphism in the development of immune thrombocytopenia among the Egyptian children

Shahira K.A. Botros, Ola M. Ibrahim, Alaa A. Gad

Abstract


Background: Interleukin 17F (IL-17F) is a pro-inflammatory cytokine that is recently proved to have a crucial role in the emergence of autoimmune diseases; it induces the expression of various cytokines, chemokines, and adhesion molecules. IL-17F polymorphism is subsequently related to enhanced IL-17F expression and activity; which may result in susceptibility to many autoimmune diseases including primary immune thrombocytopenia (PIT).

Aim of the study: This case-control study aimed to investigate the possible association between IL and 17F gene single nucleotide polymorphism (SNP) at rs 7488A/G and PIT susceptibility in Egyptian pediatric patients.

Subjects and methods: A total of 50 children with PIT with a mean age of 7 years, together with 50 age and sexmatched healthy controls were enrolled in the study for evaluation. Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) was used for detection of IL-17F polymorphism at rs7488A/G.

Results: Regarding the genotypes distribution, the frequencies of the AA, AG and GG genotypes were 96, 2, and 2% in PIT patients and 90, 10 and 0% in the control group respectively. The A and G allele frequencies were 97 and 3% in the patients’ group versus 95 and 5% in the control group. There was no significant difference in either genotypes or allelic distribution between PIT patients and the controls.

Conclusion: Our study suggests that IL17F gene polymorphism at rs7488A/G may not contribute to the susceptibility in development of primary immune thrombocytopenia in the Egyptian children.

Keywords: Interleukin 17F (IL-17F), Primary immune thrombocytopenia (PIT), Single nucleotide polymorphism (SNP), Polymerase chain reaction-restriction, fragment polymorphism (PCR-RFLP)




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