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Purpose <p>The <i>GABRG2</i> gene polymorphisms C588T and 3145G&gt;A could be predictive genetic markers that trigger idiopathic generalized epilepsy (IGE) or predict pharmaco-resistance to antiseizure medications (ASMs).</p> Methods <p>This case‒control study enrolled 85 children, including 34 patients with IGE who were responsive to ASMs (responsive group), 30 patients with IGE who were resistant to ASMs (resistant group), and 21 healthy children (control group). All participants were assessed for the <i>GABRG2</i> C588T and <i>GABRG2</i> 3145G&gt;A gene polymorphisms via polymerase chain reaction (PCR).</p> Results <p>The CC genotype of the <i>GABRG2</i> polymorphism was the most commonly reported genotype. The CT and TT genotypes were more frequently associated with epileptic patients than with controls. The T allele and the T-included genotypes were more common among epileptic patients than controls. Regarding the <i>GABRG2</i> _3145G&gt;A polymorphism, the AG genotype was the most frequent among the study groups. The GG phenotype was more common among epileptic children than in controls. The G allele and G-included genotypes were significantly associated with epilepsy (<i>p</i> = 0.02), with a 3.2-fold higher risk of occurrence of epilepsy for the G allele carriers. A statistically insignificant difference in the distribution of different genotypes and C &amp; T alleles of the <i>GABRG2</i> C588T polymorphism was detected between the ASMs-responsive and the ASMs-resistant subgroups. However, the TT genotype was more common in the ASMs-resistant subgroup (10% vs. 3%). The <i>GABRG2</i>_3145G&gt;A polymorphism appeared to be a prognostic determinant of ASMs responsiveness; the GG genotype was significantly associated with poor control of seizure activity (47% vs. 24%, <i>p</i> = 0.05). The G-included genotypes were significantly associated with ASMs resistance (76% vs. 53%, <i>p</i> = 0.05).</p> Conclusions <p>The T allele and TT genotype of the <i>GABRG2</i> C588T gene were more common among patients with IGE, whereas the G allele and the GG genotype of the <i>GABRG2</i> 3145G&gt;A gene may be significant predictors of ASMs resistance among IGE patients. Results validation in larger, multi-center studies across diverse populations is recommended.</p>

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Association of GABRG2 gene polymorphisms with idiopathic generalized epilepsy in Egyptian children: a case–control study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月27日

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  • Yahya Wahba,
  • Doaa Shahin,
  • Abdel-Hady El-Gilany,
  • Sohier Yahia,
  • Nora El-Tantawy,
  • Mohamed Khodair,
  • Hanan Sherbiny,
  • Hanaa Khalil,
  • Khadeja Soheeb

摘要

Purpose

The GABRG2 gene polymorphisms C588T and 3145G>A could be predictive genetic markers that trigger idiopathic generalized epilepsy (IGE) or predict pharmaco-resistance to antiseizure medications (ASMs).

Methods

This case‒control study enrolled 85 children, including 34 patients with IGE who were responsive to ASMs (responsive group), 30 patients with IGE who were resistant to ASMs (resistant group), and 21 healthy children (control group). All participants were assessed for the GABRG2 C588T and GABRG2 3145G>A gene polymorphisms via polymerase chain reaction (PCR).

Results

The CC genotype of the GABRG2 polymorphism was the most commonly reported genotype. The CT and TT genotypes were more frequently associated with epileptic patients than with controls. The T allele and the T-included genotypes were more common among epileptic patients than controls. Regarding the GABRG2 _3145G>A polymorphism, the AG genotype was the most frequent among the study groups. The GG phenotype was more common among epileptic children than in controls. The G allele and G-included genotypes were significantly associated with epilepsy (p = 0.02), with a 3.2-fold higher risk of occurrence of epilepsy for the G allele carriers. A statistically insignificant difference in the distribution of different genotypes and C & T alleles of the GABRG2 C588T polymorphism was detected between the ASMs-responsive and the ASMs-resistant subgroups. However, the TT genotype was more common in the ASMs-resistant subgroup (10% vs. 3%). The GABRG2_3145G>A polymorphism appeared to be a prognostic determinant of ASMs responsiveness; the GG genotype was significantly associated with poor control of seizure activity (47% vs. 24%, p = 0.05). The G-included genotypes were significantly associated with ASMs resistance (76% vs. 53%, p = 0.05).

Conclusions

The T allele and TT genotype of the GABRG2 C588T gene were more common among patients with IGE, whereas the G allele and the GG genotype of the GABRG2 3145G>A gene may be significant predictors of ASMs resistance among IGE patients. Results validation in larger, multi-center studies across diverse populations is recommended.