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Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy

机译:未发现中国癫痫患者钠通道基因sCN1a多态性与热性惊厥的相关性

摘要

A recent 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. © 2010 International League Against Epilepsy.
机译:最近在高加索人中的一项研究发现,SCN1A的单核苷酸多态性(SNP),IVS5N +5 G> A(rs3812718)与高热惊厥(FS)之间存在关联。我们检查了汉族人这种和其他标记SCN1A的SNP是否与FS风险增加有关。总共招募了728名汉族局灶性癫痫患者:97名有FS病史(男性58%,平均年龄35±12岁),另有631名没有FS病史(50%男性,平均40±15岁)。对IVS5N +5 G> A和从HapMap数据库中选择的其他七个标记SNP进行了基因分型。还对848个种族相匹配的人群进行了基因分型(50%的男性,平均年龄37±17岁)。有和没有FS的癫痫患者之间,以及有FS和癫痫的癫痫患者之间,研究的任何SNP的等位基因或基因型频率均无统计学差异。结果并不表明SCN1A SNP是汉族人FS的易感因素。 ©2010国际抗癫痫联盟。

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