Primary immune thrombocytopenia (ITP) is one of the most common blood diseases as well as the commonest acquired bleeding disorder in childhood. Although the etiology of ITP is unclear, in the pathogenesis of the disease, both environmental and genetic factors including polymorphisms of TNF-a, IL-10, and IL-4 genes have been suggested to be involved. In this study, we investigated the rs2424913 single-nucleotide polymorphism (SNP) (C46359T) in DNA methyltransferase 3B (DNMT3B) gene promoter and the VNTR polymorphism of IL-1 receptor antagonist (IL-1 Ra) intron-2 in 32 children (17 boys) with the diagnosis of ITP and 64 healthy individuals. No significant differences were found in the genotype distribution of DNMT3B polymorphism between the children with ITP and the control group, whereas the frequency of allele T appeared significantly increased in children with ITP (P？=？0.03, OR？=？2, 95% CI:？1.06–3.94). In case of IL-1 Ra polymorphism, children with ITP had a significantly higher frequency of genotype I/II, compared to control group (P？=？0.043, OR？=？2.60, 95% CI:？1.02–6.50). Moreover, genotype I/I as well as allele I was overrepresented in the control group, suggesting that allele I may have a decreased risk for development of ITP. Our findings suggest that rs2424913 DNMT3B SNP as well as IL-1 Ra VNTR polymorphism may contribute to the susceptibility to ITP. 1. Introduction Primary immune thrombocytopenia, commonly referred to as idiopathic thrombocytopenic purpura (ITP), is one of the most common blood diseases as well as the commonest acquired bleeding disorder in childhood. The affected children are young and previously healthy, and they typically present with a sudden onset of petechiae or purpura 2-3 weeks after a viral infection or immunization. Complete remission occurs in at least 2/3 of cases within 6 months of initial diagnosis [1, 2]. ITP is pathophysiologically characterized by a low circulating platelet count due to the production of autoantibodies against platelet glycoproteins, especially against GPIIb/IIIa and Ib/IX, followed by their destruction via the reticuloendothelial system [3, 4]. Although the development of autoantibodies by B cells remains central in the pathophysiology of ITP, a multidysfunction in cellular immunity and cytokine response may take place in the pathogenetic mechanisms of the disease [5–7]. Currently, it is generally accepted that both environmental and genetic factors are involved in the pathogenesis of ITP and, especially, interactions between genetic and epigenetic changes. Among the genetic factors,
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