ABSTRACT
Immune thrombocytopenia (ITP) is a multifactorial disease in which both environmental and genetic factors have been implicated. The study aimed to investigate a possible association of single nucleotide polymorphisms (SNPs rs266085 and rs2839693) in the stromal derived factor-1 (SDF-1) gene and its association to ITP and effect on ITP severity and response to treatment. Genomic DNA was extracted from peripheral blood and polymorphism in SDF-1 gene rs266085 and rs2839693 was analyzed using PCR-restriction fragment length polymorphism technique in DNA extracted from 60 children with ITP together with 90 healthy controls. On analysis of SDF-1 rs266085 polymorphism, there was a high frequency of CC genotype in cases than controls and that difference was significant at codominant, overdominant, and dominant models (P<0.05). Furthermore, carriers of the CC genotype were more susceptible to severe ITP at onset, steroid dependency, and chronicity than carriers of other genotypes (P<0.05). Otherwise, no significant differences between ITP patients and controls as regard SDF-1 rs2839693 genotypes and alleles, and we did not find a relation between this polymorphism and ITP severity, steroid dependency, or duration. SDF-1 gene rs266085 SNP C allele is associated with susceptibility to develop ITP as well as increases the risk for severe ITP at onset, chronic ITP and steroid dependency.
