Toll-like receptor 7 single nucleotide polymorphism rs3853839 in pediatric patients with immune thrombocytopenia

Immune thrombocytopenia (ITP) is a multifactorial disease involving environmental and genetic factors. This study aimed to evaluate the association of a single nucleotide polymorphism (SNP) rs3853839 in the Toll-like receptor 7 (TLR7) gene with susceptibility to ITP and its clinical features.

This retrospective, observational, case-control study was conducted on 172 pediatric patients with ITP and 170 healthy children. Genomic DNA was extracted from peripheral blood and genotyped via a snapshot technique.

The serum TLR7 mRNA in the case group (1.129±0.536) was significantly higher than that in the control group (0.851 ± 0.298) (p<0.001). Female patients with the GG genotype and male patients with the G/(-) genotype demonstrated the highest level of TLR7 mRNA (1.478±0.522 and 1.280±0.590, respectively) (p<0.0001), whereas female patients with the CC genotype and male patients with the C/(-) genotype showed the lowest level of TLR7 mRNA (0.752±0.171 and 0.732±0.218, respectively) (p<0.0001). The severity and chronic progression of ITP was significantly increased in female patients with the GG genotype and male patients with the G/(-) genotype (p<0.05). However, TLR7 rs3853839 polymorphism was not significantly associated with corticosteroid sensitivity and disease recurrence (p>0.05).

This study suggests that TLR7 rs3853839 may be a key genetic factor in the susceptibility and severity of ITP disease, providing new insights into disease progression and severity prediction. These findings present significant insights into the pathogenesis of ITP and may serve as a foundation for developing personalized treatment strategies tailored for pediatric patients with ITP.