Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA, Hinxton, UK.
Genome Med. 2011 Mar 21;3(3):17. doi: 10.1186/gm231.
Plausible genome-wide associations for episodic neurological diseases (such as migraine, epilepsy and ataxias) have been slow to emerge. The first such association was reported in a recent genome-wide association study of migraine, with quantitative expression analysis linking the variant to a nearby regulatory gene, MTDH/AEG-1. This putative mechanism, regulating the expression of the primary glutamate transporter in the brain, EAAT2/GLT-1, has interesting implications bridging the gap between Mendelian and common forms in this key group of disorders.
间歇性神经系统疾病(如偏头痛、癫痫和共济失调)的全基因组关联研究进展缓慢。最近一项偏头痛的全基因组关联研究报告了首例此类关联,定量表达分析将该变异与附近的一个调节基因 MTDH/AEG-1 联系起来。这种推测的机制调节大脑中主要谷氨酸转运体 EAAT2/GLT-1 的表达,为连接这些主要神经障碍的孟德尔和常见形式之间的空白提供了有趣的见解。