Variations in inflammation-related genes may be associated with childhood febrile seizure susceptibility

Hedley C A Emsley, Richard E. Appleton, Catherine L. Whitmore, Francine Jury, Janine A. Lamb, Joanne E. Martin, William E R Ollier, Katherine Potier De La Morandière, Kevin W. Southern, Stuart M. Allan

    Research output: Contribution to journalArticlepeer-review


    Purpose To investigate whether genetic variants in inflammation-related genes are associated with increased risk of childhood-onset febrile seizures. Method Tagging single nucleotide polymorphisms (SNPs) from 19 inflammation-related candidate genes were identified and genotyped on the Sequenom platform in a sample of Caucasian childhood-onset febrile seizures cases (n = 98) compared to ethnicity, age and gender matched febrile controls presenting without seizures (n = 123). Tests for allelic association were carried out using PLINK. SNPs generating empirical P-values (P <0.05) were analysed in an expanded Caucasian control sample (n = 2692) from the 1958 Birth Cohort. Results Six SNPs generated empirical pointwise significance values P <0.05 in the febrile seizures case-control analysis in the P2X7R (purinergic receptor P2X7), TLR4 (toll-like receptor 4), IL6R (interleukin 6 receptor) and PTGER3 (prostaglandin E receptor 3, subtype EP3) genes. The most significant result was for missense SNP rs208294 in P2X7R (P = 0.009); this novel association was supported in the expanded case-control analysis using the 1958 Birth Cohort (pointwise P = 0.009, OR = 0.63, familywise P = 0.039). Conclusion Genetic variants in inflammation-related genes, specifically purinergic receptor P2X7, may be involved in susceptibility to childhood-onset febrile seizures. © 2014 British Epilepsy Association.
    Original languageEnglish
    Pages (from-to)457-461
    Number of pages4
    JournalSeizure: European Journal of Epilepsy
    Issue number6
    Publication statusPublished - 2014


    • Case-control association study
    • Febrile seizures
    • Inflammation-related genes
    • Purinergic receptor P2X7


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