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

Emsley, Hedley C. A. and Appleton, Richard E. and Whitmore, Catherine L. and Jury, Francine and Lamb, Janine A. and Martin, Joanne E. and Ollier, William E R and De La Morandière, Katherine Potier and Southern, Kevin W. and Allan, Stuart M. (2014) Variations in inflammation-related genes may be associated with childhood febrile seizure susceptibility. Seizure - European Journal of Epilepsy, 23 (6). pp. 457-461. ISSN 1059-1311

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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.

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Seizure - European Journal of Epilepsy
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06 Feb 2017 12:16
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19 Oct 2023 10:23