ASSOCIATION OF THE NEURONAL NICOTINIC ACETYLCHOLINE RECEPTOR SUBUNIT [alpha]4 POLYMORPHISMS WITH FEBRILE SEIZURES
Abstract number :
1.189
Submission category :
Year :
2003
Submission ID :
2519
Source :
www.aesnet.org
Presentation date :
12/6/2003 12:00:00 AM
Published date :
Dec 1, 2003, 06:00 AM
Authors :
I.-Ching Chou, Cheng-Chun Lee, Chao-Ching Huang, Chang-Hai Tsai, Fuu-Jen Tsai Departments of Pediatrics, China Medical College Hospital, Taichung, Taiwan; Departments of Neurology, China Medical College Hospital, Taichung, Taiwan; Department of Pediatrics
The[alpha]4 subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has been identified as the first gene underlying an idiopathic partial epilepsy syndrome in human, autosomal-dominant nocturnal frontal lobe epilepsy. Studies provided evidences that the protein coded by CHRNA4 is one of the most abundant subunits of the neuronal nicotinic acetylcholine receptors in mammalian brain and mutations of CHRNA4 seem to cause neuronal excitation. The CHRNA4 gene may have a role in the development of febrile seizures (FSs), the majority of childhood seizures. The present study assessed the distribution of genotypes of CHRNA4 in patients with FSs.
A total of 102 children with FSs and 80 normal control subjects were included in the study. Polymerase chain reaction was used to identify the C/T polymorphism of the CHRNA4 gene. Genotypes and allelic frequencies for the CHRNA4 gene polymorphisms in both groups were compared.
The number of individuals with heterozygous CHRNA4 (Ser543Ser)-C/T genotype was significantly greater (60.8% versus 32.5%, p=0.001) and the CHRNA4 (Ser543Ser)-T allele frequency was significantly higher (P= 0.001), in patients with FSs compared to healthy controls. The odds ratio for developing FSs in individuals with the CHRNA4 (Ser543Ser)-CT genotype was 3.77 compared to individuals with two copies of the CHRNA4 (Ser543Ser)-C allele.
This study has demonstrated an association between the CHRNA4 gene and FSs. Individuals with the T allele had a higher incidence of FSs. These data suggest that the CHRNA4 gene or a closely linked gene might be one of the susceptibility factors for FSs.