title: Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy.
abstract: Arecent study in Caucasians found an association between the single nucleotide polymorphism (SNP) of SCN1A, IVS5N +5 G>A (rs3812718), and febrile seizures (FS). We examined whether this and other tagging SNPs of SCN1A were associated with an increased risk of FS in Han Chinese. A total of 728 Han Chinese patients with focal epilepsy were recruited: 97 had a history of FS (58% male, mean age 35 ± 12 years) and 631 did not (50% male, mean age 40 ± 15 years). Genotyping was performed for IVS5N +5 G>A and seven other tagging SNPs selected from the HapMap database. Genotyping was also performed in 848 ethnically matched population controls (50% male, mean age 37 ± 17 years). There was no statistically significant difference in either allele or genotype frequency of any of the SNPs studied between epilepsy patients with and without FS, and between epilepsy patients with FS and controls. The results do not suggest that SCN1A SNPs are susceptibility factors for FS in Han Chinese.
authors.affiliation: School of Pharmacy, The Chinese University of Hong Kong, Hong Kong, China.
authors.forename: Chunbo
authors.initials: C
authors.lastname: Zhang
authors.forename: Virgina
authors.initials: V
authors.lastname: Wong
authors.forename: Ping Wing
authors.initials: PW
authors.lastname: Ng
authors.forename: Colin Hiu Tung
authors.initials: CH
authors.lastname: Lui
authors.forename: Ngai Chuen
authors.initials: NC
authors.lastname: Sin
authors.forename: Ka Sing
authors.initials: KS
authors.lastname: Wong
authors.forename: Larry
authors.initials: L
authors.lastname: Baum
authors.forename: Patrick
authors.initials: P
authors.lastname: Kwan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D015897:Comorbidity; D004828:Epilepsies, Partial / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D004829:Epilepsy, Generalized / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D003294:Seizures, Febrile / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels