Association Analysis of γ2 Subunit of γ-Aminobutyric Acid Type A Receptor Polymorphisms with Febrile Seizures

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Title:	Association Analysis of γ2 Subunit of γ-Aminobutyric Acid Type A Receptor Polymorphisms with Febrile Seizures
Authors:	蔡進發;Jeffrey, J.P.Tsai
Contributors:	生物與醫學資訊學系
Keywords:	gene mutation;familial febrile seizures;single;nucleotide polymorphisms;GABA
Date:	2003
Issue Date:	2012-11-23 09:14:19 (UTC+0)
Abstract:	We attempted to identify the prevalence of the R188W mutation of the SCN2A gene and the K289M mutation and single-nucleotide polymorphism rs211014 of the GABRG2 gene in children of southern China who have febrile seizures. Neither mutation was found in our subjects. The single-nucleotide polymorphism rs211014 AA genotype was overrepresented in the febrile-seizures group compared with controls (62.4% vs 29.0%). The single-nucleotide polymorphism rs211014 A allele was higher in the febrile-seizures group (P < .005). Compared with the single-nucleotide polymorphism rs211014 CC genotype, the odds ratio for developing febrile seizures in individuals with the single-nucleotide polymorphism rs211014 AA genotype was 4.05 (P < .005). A new mutation of C-to-T transition was found at nucleotide 81719 of the GABRG2 gene in a 5-year-old boy, suggesting that the above mutations may not be the main disease mutations. The single-nucleotide polymorphism rs211014 A allele may predict susceptibility to febrile seizures.
Relation:	PEDIATRIC RESEARCH
Appears in Collections:	[Department of Biomedical informatics ] Journal Article

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