[Relationship between Single Nucleotide Polymorphisms of IL2RA, IL-10 Gene and Epstein-Barr Virus Associated Hemophagocytic Lymphohistiocytosisin in children]

Abstract

Objective: To investigate the correlation of single nucleotide polymorphisms (SNPs) of IL2RA and IL-10 gene with the pathogenesis of Epstein Barr Virus associated hemophagocytic lymphohistiocytosis (EBV-HLH) in children and the effect of correlated SNPs on the prognosis of children with EBV-HLH.

Methods: For EBV-HLH group (51 cases), EBV-associated infectious mononucleosis (EBV-IM) group (48 cases) and EBV-positive healthy children group (52 cases), the genotypes at rs2104286, rs12722489, rs11594656 of IL2RA gene and rs1800896, rs1800871 and rs1800872 of IL-10 gene were detected with the SNaPshot technique. The distribution differences of genotype frequency and allele frequency of each SNP in each group were analyzed, and the correlated SNPs were taken as the research object for survival analysis.

Results: the frequency of AA genotype at rs1800896 of IL-10 gene in EBV-HLH group was higher than that in IM group (58.8% vs 25.0%) and healthy control group (58.8% vs 26.9%). The frequency of A allele in EBV-HLH group was higher than that in IM group (74.5% vs 54.2%) and healthy control group (74.5% vs 57.7%). Similarly, the frequency of AA genotype at rs2104286 of IL2RA gene in EBV-HLH group was higher than that in both IM (54.9% vs 27.1%) and healthy control group (54.9% vs 25.0%). The frequency of A allele in EBV-HLH group was higher than that in both IM (70.6% vs 51.0%) and healthy control group (70.6% vs 46.2%). Kaplan-Meier survival curves of EBV-HLH children with different genotypes were not statistically significant.

Conclusion: The polymorphism of rs1800896 in IL-10 gene and rs2104286 in IL2RA gene may be related with the incidence of EBV-HLH in children, and the AA genotype and A allele of the both sites may be the susceptible risk factors for EBV-HLH.