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A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
Published on: July 12, 2021
Febrile seizures: interleukin 1beta and interleukin-1 receptor antagonist polymorphisms
Gul Serdaroğlu1, Asude Alpman, Ayse Tosun
1Department of Pediatrics, Division of Child Neurology, Ege University Medical School, Izmir, Turkey. gul.serdaroglu@ege.edu.tr
Insights
Genetic variations in IL-1beta and IL-1 receptor antagonist genes are linked to febrile seizures in children. Specific genotypes and alleles were more prevalent in children experiencing febrile convulsions, suggesting a role in susceptibility.
Area of Science:
- Genetics
- Pediatrics
- Immunology
Background:
- Febrile seizures are common in children.
- Genetic factors are suspected to play a role in febrile seizure susceptibility.
- Interleukin-1 beta (IL-1beta) and its receptor antagonist are key inflammatory mediators.
Purpose of the Study:
- To investigate the association between IL-1beta -511 C-->T and IL-1 receptor antagonist intron 2 variable tandem repeat polymorphisms and febrile seizures in children.
Main Methods:
- Case-control study involving 90 children with febrile seizures and 106 healthy controls.
- Polymorphisms analyzed using restriction fragment length polymorphism (RFLP) and agarose gel electrophoresis.
- Genotype and allele frequencies compared between patient and control groups.
Main Results:
- The TT genotype of IL-1beta -511 polymorphism was significantly more frequent in patients (23.3% vs 10.4%, P=0.044).
- The T allele frequency was significantly higher in the patient group (0.50 vs 0.36, P=0.040).
- The RN2/2 genotype and RN2 allele of the IL-1 receptor antagonist gene were significantly higher in patients (P=0.007 and P=0.020, respectively).
Conclusions:
- IL-1beta -511 C-->T polymorphism is associated with an increased risk of febrile seizures in children.
- IL-1 receptor antagonist intron 2 variable tandem repeat polymorphisms may also contribute to febrile seizure susceptibility.
- These genetic variations could be important factors in the pathogenesis of febrile convulsions.
Abstract:
In order to investigate the association between IL-1beta -511 C-->T and IL-1 receptor antagonist intron 2 variable tandem repeat polymorphisms, and febrile seizures in children, 90 children (mean age, 19.7 +/- 11.2 months) diagnosed with febrile seizure and 106 healthy controls (mean age, 14.2 +/- 3.6 months) with no seizure or neurologic events were included in the study. The polymorphisms were analyzed using restriction fragment length polymorphism and agarose gel electrophoresis methods. In the patient group, the frequencies of IL-1beta genotypes CC, CT, and TT were 24.4%, 52.2%, and 23.3%, respectively, compared with 38.7%, 50.95%, and 10.4%, respectively, in the control group. The TT genotype was significantly more common in the patient group than in the control group (P = 0.044), and the T allele frequency was significantly higher in the patient group (0.50 vs 0.36, P = 0.040). Among the three genotypes (RN1/1, RN1/2, and RN2/2) of the IL receptor antagonist gene variable tandem repeat polymorphisms, the frequency of both the RN2/2 genotype and the RN2 allele were significantly higher in the patient group (P = 0.007). Also RN2 allele frequency was found higher in patient group than controls (0.29 vs 0.15, P = 0.020). IL-1beta -511 and IL-1 receptor antagonist intron 2 variable tandem repeat polymorphisms may be involved in susceptibility to febrile convulsions in children.
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