IL2RA,IL-10基因单核苷酸多态性与儿童EBV-HLH相关性的研究

目的:探讨IL2RA,IL-10基因单核苷酸多态性(SNPs)与儿童EBV-HLH发病的关系及关联SNPs对患儿预后的影响。方法:对EBV-HLH组(51例),EBV相关传染性单核细胞增多症(EBV-IM)组(48例)和EBV血清阳性的健康儿童组(52例),用SNaPshot基因分型检测技术检测IL2RA基因的rs2104286、rs12722489、rs11594656位点和IL-10基因的rs1800896、rs1800871、rs1800872位点的基因型,分析各SNP的基因型频率、等位基因频率在每组的分布差异;以关联SNPs进行生存分析。结果:IL-10基因rs1800896位点AA基因型在EBV-HLH组的出现频率高于IM组(58.8%vs 25.0%)和健康对照组(58.8%vs 26.9%);A等位基因在EBV-HLH组的出现频率高于IM组(74.5%vs 54.2%)和健康对照组(74.5%vs 57.7%)。IL-2RA基因rs2104286位点AA基因型在EBV-HLH组的出现频率高于IM组(54.9%vs 27.1%)及健康对照组(54.9%vs 25.0%);A等位基因在EBV-HLH组的出现频率高于IM组(70.6%vs 51.0%)及健康对照组(70.6%vs 46.2%)。不同基因型的EBV-HLH患儿的Kaplan-Meier生存曲线,差异无统计学意义。结论:IL-10基因rs1800896位点及IL-2RA基因rs2104286位点多态性可能与儿童EBV-HLH发病相关,两位点的AA基因型、A等位基因可能是儿童EBV-HLH的易感危险因素。

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

Objective:To investigate the correlation of single nucleotide polymorphisms(SNPs)of IL2 RA 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 IL2 RA 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 IL2 RA 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 EBVHLH group was higher than that in both IM(70.6%vs 51.0%)and healthy control group(70.6%vs 46.2%).KaplanMeier 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 IL2 RA gene may be related with the incidence of EBVHLH in children,and the AA genotype and A allele of the both sites may be the susceptible risk factors for EBV-HLH.