BACKGROUND Gamma-aminobutyric acid type A receptor has long been acknowledged as a key target in the pathophysiology of epilepsy.The GABRA1 and GABRG2 genes encode the α1 and γ2 subunits of the gamma-aminobutyric ac...BACKGROUND Gamma-aminobutyric acid type A receptor has long been acknowledged as a key target in the pathophysiology of epilepsy.The GABRA1 and GABRG2 genes encode the α1 and γ2 subunits of the gamma-aminobutyric acid type A receptor,a key protein implicated in the development of epilepsy.However,the specific association of the GABRA1 IVS11+15 A>G rs2279020 and GABRG2 G3145A rs211013 polymorphisms with antiepileptic drug resistance has been elucidated in only a limited number of investigations.AIM To elucidate the association between GABRA1 IVS11+15 A>G rs2279020 and GABRG2 G3145A rs211013 gene mutations and drug resistance in epilepsy patients.METHODS A total of 100 epilepsy patients(50 drug responsive and 50 drug resistant subjects)were recruited and rs2279020-and rs211013-polymorphism analyzed by restriction fragment length polymorphism-polymerase chain reaction technique.RESULTS For GABRA1 rs2279020 polymorphism,AG genotype exhibited risk association with an odds ratio of 0.966(95%confidence interval=0.346-2.698)with P value=0.948;however,this association did not achieve statistical significance(P=0.948).Additionally,a higher risk association was identified with the GG genotype,with an odds ratio of 1.808(P=0.382).GABRG2 rs211013 polymorphism revealed no significant association with drug resistance.CONCLUSION The GABRA1 rs2279020 genetic variation is associated with an increased risk for the AG and GG variants,although this association was not statistically significant.Limited investigations have explored the relevance of genetic variations in epilepsy and drug resistance.Longitudinal research is needed to better understand their significance in epilepsy management and to optimize therapeutic strategies.展开更多
文摘BACKGROUND Gamma-aminobutyric acid type A receptor has long been acknowledged as a key target in the pathophysiology of epilepsy.The GABRA1 and GABRG2 genes encode the α1 and γ2 subunits of the gamma-aminobutyric acid type A receptor,a key protein implicated in the development of epilepsy.However,the specific association of the GABRA1 IVS11+15 A>G rs2279020 and GABRG2 G3145A rs211013 polymorphisms with antiepileptic drug resistance has been elucidated in only a limited number of investigations.AIM To elucidate the association between GABRA1 IVS11+15 A>G rs2279020 and GABRG2 G3145A rs211013 gene mutations and drug resistance in epilepsy patients.METHODS A total of 100 epilepsy patients(50 drug responsive and 50 drug resistant subjects)were recruited and rs2279020-and rs211013-polymorphism analyzed by restriction fragment length polymorphism-polymerase chain reaction technique.RESULTS For GABRA1 rs2279020 polymorphism,AG genotype exhibited risk association with an odds ratio of 0.966(95%confidence interval=0.346-2.698)with P value=0.948;however,this association did not achieve statistical significance(P=0.948).Additionally,a higher risk association was identified with the GG genotype,with an odds ratio of 1.808(P=0.382).GABRG2 rs211013 polymorphism revealed no significant association with drug resistance.CONCLUSION The GABRA1 rs2279020 genetic variation is associated with an increased risk for the AG and GG variants,although this association was not statistically significant.Limited investigations have explored the relevance of genetic variations in epilepsy and drug resistance.Longitudinal research is needed to better understand their significance in epilepsy management and to optimize therapeutic strategies.
