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

Autor: Emsley HC; Department 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., Appleton RE; Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Whitmore CL; Institute of Ageing and Chronic Disease, University of Liverpool, UK., Jury F; Centre for Integrated Genomic Medical Research, Manchester Academic Health Science Centre, University of Manchester, UK., Lamb JA; Centre for Integrated Genomic Medical Research, Manchester Academic Health Science Centre, University of Manchester, UK., Martin JE; Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Ollier WE; Centre for Integrated Genomic Medical Research, Manchester Academic Health Science Centre, University of Manchester, UK., de la Morandière KP; Department of Emergency Medicine, Central Manchester University Hospitals NHS Foundation Trust, UK., Southern KW; Institute of Translational Medicine, University of Liverpool, UK., Allan SM; Faculty of Life Sciences, University of Manchester, UK.
Jazyk: angličtina
Zdroj: Seizure [Seizure] 2014 Jun; Vol. 23 (6), pp. 457-61. Date of Electronic Publication: 2014 Mar 18.
DOI: 10.1016/j.seizure.2014.03.006
Abstrakt: 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.)
Databáze: MEDLINE
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