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Published on: September 7, 2022
IL-10-592 A/C polymorphisms is associated with EBV-HLH in Chinese children
Yali Wang1, Junhong Ai1, Zhengde Xie1
1a Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University , China.
Insights
Interleukin-10 (IL-10) gene variations are linked to Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) in children. This finding may help understand EBV-HLH development.
Area of Science:
- Immunogenetics
- Pediatric Infectious Diseases
- Molecular Biology
Background:
- Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) is a severe hyperinflammatory syndrome in children.
- Cytokine gene polymorphisms are implicated in immune dysregulation and susceptibility to viral infections.
- Understanding genetic predispositions is crucial for elucidating EBV-HLH pathogenesis.
Purpose of the Study:
- To investigate the association between cytokine gene polymorphisms and EBV-HLH in pediatric patients.
- To explore the potential mechanisms underlying EBV-HLH development.
- To identify genetic risk factors for EBV-HLH.
Main Methods:
- A case-control study involving 41 EBV-HLH patients, 70 infectious mononucleosis (IM) patients, and 170 EBV-seropositive healthy controls.
- Genotyping of cytokine gene polymorphisms using polymerase chain reaction with sequence-specific primers.
- Statistical analysis (Chi-square or Fisher's exact test) to compare genotype frequencies.
Main Results:
- Significantly higher frequencies of the IL-10-592 C allele and IL-10-592 CC genotype were observed in EBV-HLH patients compared to IM patients and healthy controls (P < 0.001).
- No significant differences in IL-10-592 polymorphism frequencies were found between IM patients and healthy controls.
- These findings suggest a specific genetic susceptibility conferred by IL-10 variations.
Conclusions:
- The IL-10-592 locus gene polymorphism is associated with the development of EBV-HLH in Chinese children.
- This genetic variation may play a role in the pathogenesis of EBV-HLH.
- Further research is warranted to confirm these findings and explore therapeutic implications.
Objectives:
The aim of this study is to investigate the relationship between cytokine gene polymorphisms and Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) in children, and to further reveal the possible mechanisms of EBV-HLH.
Methods:
Forty-one patients with EBV-HLH, 70 patients with infectious mononucleosis (IM), and 170 EBV-seropositive healthy children were evaluated. Gene polymorphism typing was performed by a polymerase chain reaction with a sequence-specific primer of a commercially available cytokine genotyping kit. Comparison of cytokine gene polymorphisms between EBV-HLH, IM patients, and healthy controls was analyzed statistically using Chi-square test or Fisher's exact test.
Results:
The frequencies of IL-10-592 C allele or IL-10-592 CC genotype were significantly higher in patients with EBV-HLH than in IM and healthy children (P < 0.001), but no significant difference was observed between IM and healthy children.
Conclusion:
IL-10-592 locus gene polymorphism is associated with the development of EBV-HLH in Chinese children.
