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INTRODUCTION: Febrile seizure (FS) is the most common form of childhood convulsions with an estimatedprevalence of 2-5% among children less than 5 years of age. Several polymorphisms have been suggested to be associated with FS including SCN1A, IL-1, IL-1Ra,IL-10…etc. Due to the febrile nature of the disease, possible association of FS and selected single nucleotide polymorphism (SNP) in the cyclooxygenase-2 (COX-2) gene was thus investigated in this study. METHOD:A series of FS patients were collected consecutively at one medical center. IL-1Ra and IL-10 polymorphisms, as well as 9 SNPs in the COX-2 gene were analyzed by direct DNA sequencing and restriction endonuclease digestion. The frequencies of SNPs were compared to that of apparent health individuals. RESULTS:The IL-Ra intron 2 variable tandem repeat polymorphisms did not exhibit significant polymorphic characteristics among analyzed FS (n=15) and health individuals (n=10). Both groups carry the predominant allele I. The frequency of IL-10 SNP (rs18000872) also did not exhibit significant difference between two groups. However, a significant difference in frequency was observed in one (rs689466) out of nine analyzed COX-2 SNPs. The -1195 A allele exhibits significant higher frequency in FS (70%) than that of health (15%) group (p<0.05).CONCLUSION:An apparent association between the -1195 A allele in the COX-2 gene and FS is observed. This novel evidence demonstrates the possible role of COX-2 SNP in the pathogenesis of the specific epileptic syndrome.

Febrile seizure; Single nucleotide polymorphism; cyclooxygenase-2