PubMed 24703484

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Automatically associated channels: Kir6.2

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

Authors: 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

Journal, date & volume: Seizure, 2014 Jun , 23, 457-61

PubMed link:

To investigate whether genetic variants in inflammation-related genes are associated with increased risk of childhood-onset febrile seizures.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.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).Genetic variants in inflammation-related genes, specifically purinergic receptor P2X7, may be involved in susceptibility to childhood-onset febrile seizures.