Study of the association between silent information regulator 1 single-nucleotide gene variant and corticosteroid response in Egyptian pediatric patients with primary immune thrombocytopenia

Context Immune thrombocytopenic purpura (ITP) is an autoimmune bleeding disorder characterized by peripheral destruction of platelets. The diagnosis is typically made by excluding the known causes of thrombocytopenia. ITP is usually treated with immunosuppressive therapy. The silent information regulator 1 (SIRT1) is a histone deacetylase of nicotinamide adenine dinucleotide (NAD+), belonging to the sirtuin family. SIRT1 is a posttranslational regulator that modulates inflammation and is related to the anti-inflammatory effect of corticosteroids. Aims This study investigates the role of the SIRT1 rs12778366 variant in ITP susceptibility, its correlation with corticosteroid sensitivity, and disease prognosis in Egyptian pediatric patients with ITP. Patients and methods Sixty patients with ITP and 60 age-matched and sex-matched normal healthy controls were included. SIRT1 rs12778366 single-nucleotide polymorphism was determined by allelic discrimination TaqMan real-time PCR. Results Our study revealed that SIRT1 rs12778366 variants among ITP patients were found to be CC genotype (1.7%), CT (16.7%), and TT (81.7%), while among the control group were CC (0%), CT (10%), and TT (90%) with no statistically significant difference between the two groups ( P >0.05); SIRT1 rs12778366 variants had no role as a risk factor of ITP susceptibility. Regarding prognosis of ITP patients who were responsive to steroids were found to be CC (0%), CT (10%), and TT (90%), while among the irresponsive ITP patients were CC (3.3%), CT (23.3%), and TT (73.3%) with no significant difference between the two groups ( P >0.05); SIRT1 rs12778366 variants had no impact on prognosis or treatment outcome. Conclusion SIRT1 rs12778366 had no role in ITP susceptibility, disease severity, or treatment outcome.