中国汉族人群SLC6A11基因多态性与耐药性癫痫的相关性研究
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肖波,男,博士,教授,博士生导师。E-mail:xiaobo_xy@126.com。

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国家自然科学基金(81401078)


Association between SLC6A11 gene polymorphisms and drug-resistant epilepsy in Chinese Han population
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    摘要:

    目的 探索中国汉族人群SLC6A11基因多态性与耐药性癫痫的相关性。方法 据入选标准和排除标准收集在湘雅医院门诊的480例癫痫患者,应用Illumina Golden Gate定制芯片对288例药物敏感癫痫患者和192例药物耐药癫痫患者进行SLC6A11基因型鉴定,分析单位点基因型频率和单体型与耐药性癫痫的相关性。结果 敏感组与耐药组之间SLC6A11基因14个SNP位点的基因型频率差异无统计学意义(P>0.05);耐药性癫痫患者单倍型5的频率高于敏感组(1% vs.4%;OR=2.56[0.107-0.763];P=0.01),经过Bonferroni多重检验后单倍型5的频率在两组间无显著差异。结论 SLC6A11基因的14个SNP多态性可能与中国汉族人群的癫痫耐药性无关。

    Abstract:

    Objective To investigate the association between SLC6A11 gene polymorphisms and drug-resistant epilepsy in Chinese Han population.Methods A total of 480 patients with epilepsy who visited the outpatient service of Xiangya Hospital were enrolled according to the inclusion and exclusion criteria. Illumina Golden Gate microarray was used for the identification of SLC6A11 genotypes in 288 patients with drug-sensitive epilepsy and 192 patients with drug-resistant epilepsy. The frequency of monolocus genotypes and the association between haplotype and drug-resistant epilepsy were analyzed.Results The genotype frequencies of 14 single nucleotide polymorphisms (SNPs) of SLC6A11 showed no significant differences between the drug-sensitive epilepsy group and the drug-resistant epilepsy group (P>0.05). The patients with drug-resistant epilepsy had a significantly higher frequency of haplotype 5 than those with drug-sensitive epilepsy (1% vs 4%; OR=2.56; 95% CI 0.107-0.763; P=0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that the frequency of haplotype 5 showed no significant difference between the two groups.Conclusions Fourteen SNPs of SLC6A11 may not be associated with drug-resistant epilepsy in Chinese Han population.

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解媛媛, 肖波456.中国汉族人群SLC6A11基因多态性与耐药性癫痫的相关性研究[J].国际神经病学神经外科学杂志,2016,43(3):219-223111XIE Yuan-Yuan, XIAO Bo222. Association between SLC6A11 gene polymorphisms and drug-resistant epilepsy in Chinese Han population[J]. Journal of International Neurology and Neurosurgery,2016,43(3):219-223

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  • 收稿日期:2016-04-18
  • 最后修改日期:2016-06-22
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  • 在线发布日期: 2016-06-28
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