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Seizure. 2014 Jun;23(6):457-61. doi: 10.1016/j.seizure.2014.03.006. Epub 2014 Mar 18.

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

Author information

  • 1Department of Neurology, Preston, UK; School of Medicine, University of Liverpool, UK; School of Medicine, University of Manchester, UK. Electronic address: hedley.emsley@manchester.ac.uk.
  • 2Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
  • 3Institute of Ageing and Chronic Disease, University of Liverpool, UK.
  • 4Centre for Integrated Genomic Medical Research, Manchester Academic Health Science Centre, University of Manchester, UK.
  • 5Department of Emergency Medicine, Central Manchester University Hospitals NHS Foundation Trust, UK.
  • 6Institute of Translational Medicine, University of Liverpool, UK.
  • 7Faculty of Life Sciences, University of Manchester, UK.

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.

Copyright © 2014 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

KEYWORDS:

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

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