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KMID : 1151120190270020038
Annals of Child Neurology
2019 Volume.27 No. 2 p.38 ~ p.45
Association of Tumor Necrosis Factor-¥á Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus
Choi Ji-Eun

Choi Sun-Ah
Kim Soo-Yeon
Kim Hun-Min
Lim Byung-Chan
Hwang Hee
Chae Jong-Hee
Kim Ki-Joong
Oh So-Hee
Shin Jeon-Soo
Abstract
Purpose: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy with febrile seizure plus (GEFS+) are still unclear. Therefore we perform this study to find the association of promotor variants in pro-inflammatory cytokine tumor necrosis factor-¥á (TNF-¥á) genes and anti-inflammatory cytokine interleukin 10 (IL-10) genes either with FS, FS+, and GEFS+ in Korean children.

Methods: Fifty-seven children with FS, 32 FS+, and 12 GEFS+ patients were compared with 108 controls. The allelic and genotypic distributions were compared for TNF-¥á-238 (rs361525), -308 (rs1800629), -857 (rs1799724), -863 (rs1800630), and IL-10-592 (rs1800872), -819 (rs1800871), -1082 (rs1800896), and -1352 (rs1800893).

Results: Allelic and genotypic frequencies of TNF-¥á and IL-10 promotor variants showed no significant differences between FS, FS+, and GEFS+ versus controls. However, AA genotypes at TNF-¥á-863 were present only in controls. TNF-¥á-863 (rs1800630) promoter variants showed an association with FS, FS+, and GEFS+ in a recessive mode of inheritance pattern (P<0.05).

Conclusion: Our results suggest that AA genotypes at TNF-¥á-863 may be associated with FS, FS+, and GEFS+, implicating protective roles against to development of FS, FS+, and GEFS+.
KEYWORD
Tumor necrosis factor-alpha, Interleukin-10, Epilepsy, Seizures, febrile, Variants
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