Department of Physiology, Faculty of Medicine, Monastir, Tunisia.
Int J Immunogenet. 2010 Apr;37(2):117-23. doi: 10.1111/j.1744-313X.2010.00900.x. Epub 2010 Feb 5.
Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGE) that account for about 5-10% of all types of epilepsies. The first putative locus termed EJM1 is on the human leucocyte antigen (HLA-II) region of chromosome 6p21.3. Interestingly, the EJM1 region includes the Transporter associated with antigen processing 1 (TAP-1) gene encoding the TAP-1, and previous studies have reported associations between HLA-II polymorphisms and different types of epilepsy. In this study, we report an association between two TAP-1 functional polymorphisms the I333V and the D637G and most common IGE in Tunisian population, but we fail to find significant results in Caucasian with JME.
青少年肌阵挛性癫痫（JME）是特发性全面性癫痫（IGE）中最常见的一种，占所有癫痫类型的 5-10%。第一个称为 EJM1 的假定基因位于人类白细胞抗原（HLA-II）区域的 6p21.3 染色体上。有趣的是，EJM1 区域包括与抗原处理相关的转运蛋白 1（TAP-1）基因，该基因编码 TAP-1，先前的研究报告了 HLA-II 多态性与不同类型癫痫之间的关联。在这项研究中，我们报告了 TAP-1 两个功能多态性 I333V 和 D637G 与突尼斯人群中最常见的 IGE 之间的关联，但我们未能在 JME 的白种人中发现显著结果。
