Department of Pediatrics, Faculty of Medicine, Menoufia University Hospital, Egypt.
Seizure. 2018 Aug;60:39-43. doi: 10.1016/j.seizure.2018.06.004. Epub 2018 Jun 6.
Previous studies have suggested that GABARG2 (Gamma-Aminobutyric acid type A Receptor Gamma 2 subunit) could be a gene of interest in genetic epilepsy; through possible associations with increased epilepsy susceptibility or resistance to antiepileptic drugs. The present study was designed to explore whether the GABARG2 C588 T (rs211037) genetic variant predicts susceptibility to epilepsy and pharmacoresistance among Egyptian children with Idiopathic Generalized Epilepsy (IGE).
A cohort of 210 Egyptian children was divided into two groups for this case-control study: group (I) included 100 children with IGE, group (II) comprised of 110 paediatric healthy controls. PCR-RFLP was used to amplify the C588 T polymorphism of the GABARG2 gene, which was digested with APOI restriction enzymes.
There was a higher frequency of the TT genotype (P = 0.004) and T allele (P = 0.002) of the C588 T polymorphism of the GABARG2 gene in patients than controls. Besides, there was a substantial increase of the T allele among drug-resistant patients compared with those responding to antiepileptic drugs (P = 0.00015). Children with the C allele were four times more likely to be responsive to antiepileptic drugs than non-C-allele-carriers.
The C588 T polymorphism of GABARG2 is associated with an increased risk of developing childhood IGE and may modulate patients' response to antiepileptic drugs.
先前的研究表明，GABARG2（γ-氨基丁酸 A 型受体 γ2 亚基）可能是遗传癫痫相关的感兴趣基因；通过可能与癫痫易感性增加或对抗癫痫药物的耐药性有关。本研究旨在探讨 GABARG2 C588T(rs211037)遗传变异是否可预测埃及特发性全面性癫痫（IGE）儿童的癫痫易感性和药物耐药性。
本病例对照研究纳入了 210 名埃及儿童，将其分为两组：组（I）包括 100 名 IGE 患儿，组（II）包括 110 名儿科健康对照。采用 PCR-RFLP 扩增 GABARG2 基因的 C588T 多态性，并用 APOI 限制酶进行消化。
与对照组相比，患者组 GABARG2 基因 C588T 多态性的 TT 基因型（P=0.004）和 T 等位基因（P=0.002）的频率更高。此外，与对癫痫药物有反应的患者相比，耐药患者的 T 等位基因显著增加（P=0.00015）。携带 C 等位基因的儿童对癫痫药物的反应可能性是不携带 C 等位基因的 4 倍。
GABARG2 的 C588T 多态性与儿童 IGE 的发病风险增加有关，并可能调节患者对抗癫痫药物的反应。
