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
Full text not available from this repository.Abstract
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.