Association Analysis of TLR4, TLR6 and TLR7 Variants Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus in Children
Abstract number :
V.098
Submission category :
12. Genetics / 12A. Human Studies
Year :
2021
Submission ID :
1826727
Source :
www.aesnet.org
Presentation date :
12/9/2021 12:00:00 PM
Published date :
Nov 22, 2021, 06:56 AM
Authors :
Jieun Choi, MD,PhD - Seoul National University Boramae Medical Center; Soo Yeon Kim - Department of Pediatrics, Pediatric Clinical Neuroscience Center - Seoul National University Children’s Hospital; Hunmin Kim - Department of Pediatrics - Seoul National University Bundang Hospital; Byung Chan Lim - Department of Pediatrics, Pediatric Clinical Neuroscience Center - Seoul National University Children’s Hospital; Hee Hwang - Department of Pediatrics, Pediatric Clinical Neuroscience Center - Seoul National University Bundang Hospital; Jong Hee Chae - Department of Pediatrics, Pediatric Clinical Neuroscience Center - Seoul National University Children’s Hospital; Ki Joong Kim - Department of Pediatrics, Pediatric Clinical Neuroscience Center - , Seoul National University Children’s Hospital; Sohee oh - Department of Biostatistics - Seoul National University Boramae Medical Center
Rationale: Febrile seizures (FS) is the unique type of seizures only occurred during childhood. Genetic epilepsy with febrile seizure plus (GEFS+) is familial epilepsy syndrome associated with FS and afebrile seizures. Both types are related with fever, however, whether genetic susceptibility to inflammation is implicated is still unclear. This study was done too analyze an association of genetic variants in TLR4, TLR6 and TLR7 genes with FS and GEFS+.
Methods: Fifty-seven FS and 43 GEFS+ were included. Controls were 108 febrile children without FS. Genotyping was performed with SNaPshot for TLR4 (rs10759932), TLR4 (rs10116253), TLR6 (rs10759931), and TLR7 (rs2737190). The allelic, genotypic distribution and correlations with FS and GEFS+ were analyzed.
Results: For TLR4 (rs10759932), CC genotypes showed higher association with GEFS+ than CT+TT genotypes (OR 1.709). On the other hand, CT genotypes in TLR4 (rs10116253) showed higher association with FS than CC+TT genotypes (OR 1.590). In TLR6 (rs10759931), AG genotypes showed higher association with FS than AA+GG genotypes. In TLR7 (rs2737190), AG genotypes showed higher association with FS than AA+GG genotypes.
Conclusions: Genetic variants of TLR4, TLR6 and TLR7 showed associations with FS or GEFS+. Our findings support the implication of genetic susceptibility to inflammation to the development of FS and GEFS+ in children.
Funding: Please list any funding that was received in support of this abstract.: The Seoul National University Boramae Hospital Research Fund (No. 02-2018-9, 01-2014-11 and 03-2013-8).
Genetics