Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?
Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?
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DOI：
10.1111/j.1528-1167.2005.49004.x
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发表时间：
2005-05-01
期刊：
影响因子：
5.6
通讯作者：
Mulley, JC
中科院分区：
文献类型：
--
作者：
Tan, NCK;Heron, SE;Mulley, JC
目的：γ-氨基丁酸（GABA）受体基因是癫痫易感性的主要候选基因。在意大利的一个队列研究中报道了GABA（B）受体1基因（GABBR 1）中c.1465 G-> A变异体与颞叶癫痫（TLE）易感性之间的关联。我们试图复制这种关联在一个独立的Australian cohol.Methods：234例TLE患者和164名健康对照进行了基因分型为c.1465G -> A变异，通过使用纳入标准相同的第一个study.Results：c.1465G -> A变异被发现在一个TLE患者和一个对照组。基因型和等位基因的频率并没有显着差异groups.Conclusions：我们没有复制的c.1465G -> A变异和TLE的易感性之间的关联报告。我们认为，最初的积极关联可能是由于未被发现的人口分层，强调基因组控制的重要性。人群特异性效应也可能发挥作用，我们强调需要证明体外功能效应，以赋予任何拟议的关联生物学意义。
Purpose:gamma-Aminobutyric acid (GABA)-receptor genes are prime candidates for a role in seizure susceptibility. An association between the c.1465G -> A variant in the GABA(B) receptor 1 gene (GABBR1) and susceptibility to temporal lobe epilepsy (TLE) has been reported in an Italian cohort. We sought to replicate this association in an independent Australian cohort.Methods: The 234 patients with TLE and 164 healthy controls were genotyped for the c.1465G -> A variant, by using inclusion criteria identical to those of the first study.Results: The c.1465G -> A variant was found in one TLE patient and one control subject. Genotype and allele frequencies did not differ between groups.Conclusions: We did not replicate the reported associations between the c.1465G -> A variant and susceptibility to TLE. We suggest that the initial positive association may be due to undetected population stratification; the importance of genomic control is emphasized. Population-specific effects also may play a role, and we highlight the need to demonstrate an in vitro functional effect to give biologic meaning to any proposed association.